Two New Families With TAF13 Variant Presenting With Syndromic 46,XY Disorder of Sex Development: Expanding the Clinical Phenotype.

Authors: Arı H; Department of Pediatric Endocrinology, Ankara Etlik City Children's Hospital, University of Health Sciences, Ankara, Turkey., Türkyılmaz A; Department of Medical Genetics, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey., Doğan Arı AB; Department of Pediatric Genetics, Ankara Bilkent City Children's Hospital, University of Health Sciences, Ankara, Turkey., Kardeş H; Department of Pediatric Endocrinology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey., Sezer A; Department of Medical Genetics, Ankara Etlik City Hospital, Ankara, Turkey., Cimbek EA; Department of Pediatric Endocrinology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey., Savaş Erdeve Ş; Department of Pediatric Endocrinology, Ankara Etlik City Children's Hospital, University of Health Sciences, Ankara, Turkey., Karagüzel G; Department of Pediatric Endocrinology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Dec; Vol. 197 (12), pp. e64183. Date of Electronic Publication: 2025 Jul 18.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

MeSH Terms: TATA-Binding Protein Associated Factors*/genetics , Disorder of Sex Development, 46,XY*/genetics , Disorder of Sex Development, 46,XY*/pathology , Disorder of Sex Development, 46,XY*/diagnosis , Intellectual Disability*/genetics , Intellectual Disability*/pathology , Microcephaly*/genetics , Microcephaly*/pathology, Humans ; Male ; Female ; Phenotype ; Pedigree ; Child ; Exome Sequencing ; Mutation ; Child, Preschool

Metabolic functions for molecular chaperones and stress proteins in microcephaly.

Authors: Morris MJ; School of Biomedical Sciences, Faculty of Health, Medicine and Behavioural Sciences, The University of Queensland, St Lucia, QLD, 4072, Australia., Ng DCH; School of Biomedical Sciences, Faculty of Health, Medicine and Behavioural Sciences, The University of Queensland, St Lucia, QLD, 4072, Australia. d.ng1@uq.edu.au.

Source: Cellular and molecular life sciences : CMLS [Cell Mol Life Sci] 2025 Nov 25; Vol. 82 (1), pp. 418. Date of Electronic Publication: 2025 Nov 25.

Publication Type: Journal Article; Review

Journal Info: Publisher: Springer Country of Publication: Switzerland NLM ID: 9705402 Publication Model: Electronic Cited Medium: Internet ISSN: 1420-9071 (Electronic) Linking ISSN: 1420682X NLM ISO Abbreviation: Cell Mol Life Sci Subsets: MEDLINE

MeSH Terms: Microcephaly*/metabolism , Microcephaly*/pathology , Microcephaly*/genetics , Molecular Chaperones*/metabolism , Heat-Shock Proteins*/metabolism, Humans ; Animals ; Brain/metabolism ; Brain/growth & development ; Brain/pathology ; Stress, Physiological

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions.

Authors: Gear R; Victorian Clinical Genetics Services, Melbourne, Australia.; Murdoch Children's Research Institute, Melbourne, Australia., Kalitsis P; Victorian Clinical Genetics Services, Melbourne, Australia.; Murdoch Children's Research Institute, Melbourne, Australia., Glass M; Victorian Clinical Genetics Services, Melbourne, Australia.; Murdoch Children's Research Institute, Melbourne, Australia., Isidor B; University Hospital Nantes, Nantes, France., Vincent-Delorme C; Centre Hospitalier Arras, Arras, France., Petit F; Centre Hospitalier Universitaire de Lille, Lille, France., Verhagen JMA; Erasmus University Medical Center Rotterdam, Rotterdam, the Netherlands., Jorge A; Human Genome and Stem-Cell Research Center, Institute of Biosciences, Department of Genetics and Evolutionary Biology, University of São Paulo, São Paulo, Brazil.; Genetic Endocrinology Unit, University of Sao Paulo, Sao Paulo, Brazil., Krepischi ACV; Human Genome and Stem-Cell Research Center, Institute of Biosciences, Department of Genetics and Evolutionary Biology, University of São Paulo, São Paulo, Brazil., Osei-Owusu I; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, USA., Martinez E; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, USA., O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, USA., de Leeuw N; Radboud University Medical Center, Nijmegen, the Netherlands., Ruggiero S; Children's Hospital of Philadelphia, Philadelphia, USA., Helbig I; Children's Hospital of Philadelphia, Philadelphia, USA.; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, USA.; Department of Neurology, University of Pennsylvania, Perelman School of Medicine, Philadelphia, USA., David F 1st; Victorian Clinical Genetics Services, Melbourne, Australia.; Murdoch Children's Research Institute, Melbourne, Australia., Brown NJ; Victorian Clinical Genetics Services, Melbourne, Australia.; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Nov; Vol. 197 (11), pp. e64153. Date of Electronic Publication: 2025 Jul 09.

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

MeSH Terms: Intellectual Disability*/genetics , Intellectual Disability*/pathology , Microcephaly*/genetics , Microcephaly*/pathology , Chromosomes, Human, Pair 3*/genetics, Humans ; Female ; Male ; Chromosome Deletion ; Child, Preschool ; Child ; Phenotype ; Infant ; Adolescent ; Genetic Association Studies

Ethanol exposure impaired mitotic division in apical radial glial cells and disrupted early cortical development in human forebrain organoids: Implications for ethanol-induced microcephaly.

Authors: Lü L; Department of Pharmacology and Toxicology, University of Louisville Health Science Center, Louisville, KY 40202, USA; University of Louisville Alcohol Research Center, Louisville, KY 40202, USA. Electronic address: lhlv6387@gmail.com., Bai M; Department of Pharmacology and Toxicology, University of Louisville Health Science Center, Louisville, KY 40202, USA; University of Louisville Alcohol Research Center, Louisville, KY 40202, USA. Electronic address: miao.bai@louisville.edu., Wang X; Department of Pharmacology and Toxicology, University of Louisville Health Science Center, Louisville, KY 40202, USA; University of Louisville Alcohol Research Center, Louisville, KY 40202, USA. Electronic address: Xiaoqing.wang@louisville.edu., Liu J; Department of Pharmacology and Toxicology, University of Louisville Health Science Center, Louisville, KY 40202, USA; University of Louisville Alcohol Research Center, Louisville, KY 40202, USA. Electronic address: jie.liu@louisville.edu., Wu X; Ben May Department for Cancer Research, University of Chicago, Chicago, IL, 60605, USA. Electronic address: xiaoyangwu@uchicago.edu., Zhang HG; Department of Microbiology and Immunology, James Graham Brown Cancer Center, University of Louisville, Louisville, KY 40292, USA; Robley Rex Veterans Affairs Medical Center, Louisville, KY 40292, USA. Electronic address: huangge.zhang@louisville.edu., Feng W; Department of Structural and Cellular Biology, Tulane University School of Medicine, New Orleans, LA 70112, USA. Electronic address: wfeng@tulane.edu., Chen SY; Department of Pharmacology and Toxicology, University of Louisville Health Science Center, Louisville, KY 40202, USA; University of Louisville Alcohol Research Center, Louisville, KY 40202, USA. Electronic address: shaoyu.chen@louisville.edu.

Source: Toxicology [Toxicology] 2025 Nov; Vol. 517, pp. 154244. Date of Electronic Publication: 2025 Jul 28.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: Ireland NLM ID: 0361055 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-3185 (Electronic) Linking ISSN: 0300483X NLM ISO Abbreviation: Toxicology Subsets: MEDLINE

MeSH Terms: Ethanol*/toxicity , Organoids*/drug effects , Organoids*/pathology , Microcephaly*/chemically induced , Microcephaly*/pathology , Prosencephalon*/drug effects , Prosencephalon*/pathology , Mitosis*/drug effects , Ependymoglial Cells*/drug effects , Ependymoglial Cells*/pathology , Cerebral Cortex*/drug effects , Cerebral Cortex*/pathology, Humans ; Female ; Pregnancy

CETN3 deficiency induces microcephaly by disrupting neural stem/progenitor cell fate through impaired centrosome assembly and RNA splicing.

Authors: Xu J; Institute for Regenerative Medicine, Medical Innovation Center and State Key Laboratory of Cardiovascular Diseases, Shanghai East Hospital, National Stem Cell Translational Resource Center & Ministry of Education Stem Cell Resource Center, Frontier Science Center for Stem Cell Research, School of Life Sciences and Technology, Tongji University, Shanghai, China., Mao X; National Health Commission Key Laboratory of Birth Defect Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, University of South China, Changsha, China., Liu Z; National Health Commission Key Laboratory of Birth Defect Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, University of South China, Changsha, China., Jiang N; Institute for Regenerative Medicine, Medical Innovation Center and State Key Laboratory of Cardiovascular Diseases, Shanghai East Hospital, National Stem Cell Translational Resource Center & Ministry of Education Stem Cell Resource Center, Frontier Science Center for Stem Cell Research, School of Life Sciences and Technology, Tongji University, Shanghai, China., Wong XE; Institute for Regenerative Medicine, Medical Innovation Center and State Key Laboratory of Cardiovascular Diseases, Shanghai East Hospital, National Stem Cell Translational Resource Center & Ministry of Education Stem Cell Resource Center, Frontier Science Center for Stem Cell Research, School of Life Sciences and Technology, Tongji University, Shanghai, China., Liu D; Institute for Regenerative Medicine, Medical Innovation Center and State Key Laboratory of Cardiovascular Diseases, Shanghai East Hospital, National Stem Cell Translational Resource Center & Ministry of Education Stem Cell Resource Center, Frontier Science Center for Stem Cell Research, School of Life Sciences and Technology, Tongji University, Shanghai, China.; School of Basic Medical Sciences, Harbin Medical University, Harbin, China., Wang Y; Institute for Regenerative Medicine, Medical Innovation Center and State Key Laboratory of Cardiovascular Diseases, Shanghai East Hospital, National Stem Cell Translational Resource Center & Ministry of Education Stem Cell Resource Center, Frontier Science Center for Stem Cell Research, School of Life Sciences and Technology, Tongji University, Shanghai, China., Zhan H; Institute for Regenerative Medicine, Medical Innovation Center and State Key Laboratory of Cardiovascular Diseases, Shanghai East Hospital, National Stem Cell Translational Resource Center & Ministry of Education Stem Cell Resource Center, Frontier Science Center for Stem Cell Research, School of Life Sciences and Technology, Tongji University, Shanghai, China., Liu S; Department of Biology, Brandeis University, Waltham, MA, USA., Yu J; Institute for Regenerative Medicine, Medical Innovation Center and State Key Laboratory of Cardiovascular Diseases, Shanghai East Hospital, National Stem Cell Translational Resource Center & Ministry of Education Stem Cell Resource Center, Frontier Science Center for Stem Cell Research, School of Life Sciences and Technology, Tongji University, Shanghai, China., Yuan R; Department of Medicament, College of Medicine, Tibet University, Lhasa, China.; Research Center for Ecological Resources and Modern Development of Endemic Medicinal Plants on the Qinghai-Tibet Plateau, Tibet University, Lhasa, China., Bai Q; Key Laboratory of Spine and Spinal Cord Injury Repair and Regeneration of Ministry of Education, Orthopaedic Department of Tongji Hospital, School of Medicine, Tongji University, Shanghai, China., Bai X; Molecular Physiology, Center for Integrative Physiology and Molecular Medicine (CIPMM), University of Saarland, Homburg, Germany.; Center for Gender-specific Biology and Medicine (CGBM), University of Saarland, Homburg, Germany.; State Key Laboratory of Natural Medicines, Department of Pharmacology, School of Pharmacy, China Pharmaceutical University, Nanjing, China., Huang W; Molecular Physiology, Center for Integrative Physiology and Molecular Medicine (CIPMM), University of Saarland, Homburg, Germany.; Center for Gender-specific Biology and Medicine (CGBM), University of Saarland, Homburg, Germany.; Brain Research Center, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, China., Xie R; Department of Materials, Design and Manufacturing Engineering, School of Engineering, University of Liverpool, Liverpool, UK., Krenn V; Department of Biotechnology and Biosciences, University of Milano-Bicocca, Milano, 20126, Italy., Kirchhoff F; Molecular Physiology, Center for Integrative Physiology and Molecular Medicine (CIPMM), University of Saarland, Homburg, Germany.; Center for Gender-specific Biology and Medicine (CGBM), University of Saarland, Homburg, Germany., Wang H; Clinical Medical Research Center for Hereditary Birth Defects and Rare Diseases in Hunan Province, The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University, Changsha, Hunan, China. FX20240002@csu.edu.cn., Guo Z; Institute for Regenerative Medicine, Medical Innovation Center and State Key Laboratory of Cardiovascular Diseases, Shanghai East Hospital, National Stem Cell Translational Resource Center & Ministry of Education Stem Cell Resource Center, Frontier Science Center for Stem Cell Research, School of Life Sciences and Technology, Tongji University, Shanghai, China. spring_gzm@tongji.edu.cn., Bian S; Institute for Regenerative Medicine, Medical Innovation Center and State Key Laboratory of Cardiovascular Diseases, Shanghai East Hospital, National Stem Cell Translational Resource Center & Ministry of Education Stem Cell Resource Center, Frontier Science Center for Stem Cell Research, School of Life Sciences and Technology, Tongji University, Shanghai, China. shan_bian@tongji.edu.cn.; National Health Commission Key Laboratory of Birth Defect Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, University of South China, Changsha, China. shan_bian@tongji.edu.cn.; China Regional Research Center, International Center for Genetic Engineering and Biotechnology, Taizhou, China. shan_bian@tongji.edu.cn.

Source: EMBO molecular medicine [EMBO Mol Med] 2025 Oct; Vol. 17 (10), pp. 2735-2761. Date of Electronic Publication: 2025 Sep 08.

Publication Type: Journal Article

Journal Info: Publisher: EMBO Press Country of Publication: Germany NLM ID: 101487380 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1757-4684 (Electronic) Linking ISSN: 17574676 NLM ISO Abbreviation: EMBO Mol Med Subsets: MEDLINE

MeSH Terms: Microcephaly*/genetics , Microcephaly*/pathology , Centrosome*/metabolism , RNA Splicing* , Neural Stem Cells*/metabolism , Neural Stem Cells*/physiology, Humans ; Child, Preschool ; Cell Differentiation ; Brain

A Further Case Supporting PDCD6IP as the Gene Responsible for a Neurodevelopmental Disorder With Microcephaly.

Authors: D'Alessio AM; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy., Torella A; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Scuola Superiore Meridionale, Genomics and Experimental Medicine Program, University 'Federico II', Naples, Italy., Morleo M; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Department of Precision Medicine, University 'Luigi Vanvitelli', Naples, Italy., Nigro V; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Department of Precision Medicine, University 'Luigi Vanvitelli', Naples, Italy., Brunetti-Pierri N; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy.; Scuola Superiore Meridionale, Genomics and Experimental Medicine Program, University 'Federico II', Naples, Italy.

Corporate Authors: TUDP Study Group

Source: Clinical genetics [Clin Genet] 2025 Oct; Vol. 108 (4), pp. 488-490. Date of Electronic Publication: 2025 Jul 16.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

MeSH Terms: Apoptosis Regulatory Proteins*/genetics , Carrier Proteins*/genetics , Genetic Predisposition to Disease* , Microcephaly*/genetics , Microcephaly*/diagnosis , Neurodevelopmental Disorders*/genetics , Neurodevelopmental Disorders*/diagnosis, Female ; Humans ; Male ; Mutation ; Child ; Young Adult ; Adult ; Pedigree

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly.

Authors: Shah R; George A. Jervis Clinic, NYS Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA., Shifrin N; Department of Human Genetics, NYS Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA., Keogh ME; George A. Jervis Clinic, NYS Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA., Marchi E; Department of Human Genetics, NYS Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA., Gavin M; George A. Jervis Clinic, NYS Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA., Amble K; George A. Jervis Clinic, NYS Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA.; Department of Human Genetics, NYS Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA., Lyon GJ; George A. Jervis Clinic, NYS Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA.; Department of Human Genetics, NYS Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA.; Biology PhD Program, The Graduate Center, The City University of New York, New York, USA.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Oct; Vol. 197 (10), pp. e64122. Date of Electronic Publication: 2025 May 29.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

MeSH Terms: Microcephaly*/genetics , Microcephaly*/diagnosis , Microcephaly*/pathology , Mandibulofacial Dysostosis*/genetics , Mandibulofacial Dysostosis*/diagnosis , Mandibulofacial Dysostosis*/complications , Mandibulofacial Dysostosis*/pathology , Ribonucleoprotein, U5 Small Nuclear*/genetics , Neurodevelopmental Disorders*/genetics , Neurodevelopmental Disorders*/diagnosis , Neurodevelopmental Disorders*/pathology , Peptide Elongation Factors*/genetics, Humans ; Male ; Exome Sequencing ; Young Adult ; Intellectual Disability/genetics ; Intellectual Disability/diagnosis ; Adult ; Phenotype

Growth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature Review.

Authors: Aukema SM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Institute of Medical Genetics, University Medicine Oldenburg, Oldenburg, Germany., Vandenput K; Radboud University Medical Center, Nijmegen, the Netherlands., Scarano E; Pediatrics Unit, IRCCS Azienda Ospedaliero, Universitaria di Bologna, Bologna, Italy., Goel H; Hunter Genetics, Waratah, Australia.; University of Newcastle, Callaghan, Australia., Guo L; Chicago Medical School, North Chicago, Illinois, USA., Vanneste M; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Devriendt K; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Zwaveling-Soonawala N; Department of Pediatric Endocrinology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Kiewert C; Division of Paediatric Endocrinology and Diabetes, Member of ENDO-ERN, University Hospital Essen, University of Duisburg, Essen, Germany., Kuechler A; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Parenti I; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Orlandini E; Specialty School of Pediatrics, Alma Mater University of Bologna, Bologna, Italy., de Boer E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Health Innovation Manchester, Manchester, UK., Wall E; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Health Innovation Manchester, Manchester, UK.; West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Birmingham, UK., Lyon GJ; Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA.; George A. Jervis Clinic, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA.; Biology PhD Program, The Graduate Center, The City University of New York, New York, New York, USA., Low KJ; Department of Clinical Genetics, University Hospital Bristol and Weston NHS Foundation Trust, Bristol, UK.; Bristol Medical School, University of Bristol, Bristol, UK., Geelen JM; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands., van der Zwan YG; Department of Pediatric Endocrinology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Paediatrics, Isala, Zwolle, the Netherlands., Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Dec; Vol. 197 (12), pp. e64168. Date of Electronic Publication: 2025 Jul 17.

Publication Type: Journal Article; Review

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

MeSH Terms: Human Growth Hormone*/therapeutic use , Human Growth Hormone*/deficiency , Human Growth Hormone*/administration & dosage , Intellectual Disability*/drug therapy , Intellectual Disability*/genetics , Intellectual Disability*/pathology , Abnormalities, Multiple*/drug therapy , Abnormalities, Multiple*/genetics , Abnormalities, Multiple*/pathology , Tooth Abnormalities*/drug therapy , Tooth Abnormalities*/genetics , Tooth Abnormalities*/pathology , Microcephaly*/drug therapy , Microcephaly*/genetics , Microcephaly*/pathology, Humans ; Female ; Child ; Male ; Body Height/drug effects ; Adolescent ; Child, Preschool ; Repressor Proteins/genetics ; Phenotype ; Recombinant Proteins/therapeutic use ; Prader-Willi Syndrome/drug therapy ; Prader-Willi Syndrome/genetics ; Turner Syndrome/drug therapy ; Turner Syndrome/genetics ; Facies ; Bone Diseases, Developmental

SCR Disease Name: KBG syndrome

Childhood-Onset Neurodegeneration With Progressive Microcephaly (CONPM) due to a DTYMK Homozygous Pathogenic Variant: Outlining the Phenotype of an Ultra-Rare Disease.

Authors: Raúl HC; Department of Medical Genetics, Hospital Infantil de México Federico Gómez, Mexico City, Mexico., Patricio AC; Clinic of Inborn Errors of Metabolism, Hospital Infantil de México Federico Gómez, Mexico City, Mexico., Tania BA; Department of Medical Genetics, Hospital Infantil de México Federico Gómez, Mexico City, Mexico., Osiris RR; Department of Neurology, Hospital Infantil de México Federico Gómez, Mexico City, Mexico., Alberto VE; Department of Imaging, Hospital Infantil de México Federico Gómez, Mexico City, Mexico., Magdalena CR; Clinic of Inborn Errors of Metabolism, Hospital Infantil de México Federico Gómez, Mexico City, Mexico., Tamara VR; Department of Medical Genetics, Hospital Infantil de México Federico Gómez, Mexico City, Mexico., Rodrigo MS; Department of Medical Genetics, Hospital Infantil de México Federico Gómez, Mexico City, Mexico.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Dec; Vol. 197 (12), pp. e64187. Date of Electronic Publication: 2025 Jul 22.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

MeSH Terms: Microcephaly*/genetics , Microcephaly*/pathology , Microcephaly*/diagnostic imaging , Microcephaly*/complications , Neurodegenerative Diseases*/genetics , Neurodegenerative Diseases*/pathology , Phosphotransferases (Alcohol Group Acceptor)*/genetics , Rare Diseases*/genetics , Rare Diseases*/pathology, Humans ; Male ; Child, Preschool ; Homozygote ; Phenotype ; Exome Sequencing ; Mutation, Missense/genetics

What the fruit fly can tell us about autosomal recessive primary microcephaly.

Authors: Chakraborty S; Department of Molecular Biology, University of Wyoming, Laramie, WY USA., Florez S; Department of Molecular Biology, University of Wyoming, Laramie, WY USA., Schoborg T; Department of Molecular Biology, University of Wyoming, Laramie, WY USA.

Source: Fly [Fly (Austin)] 2025 Dec; Vol. 19 (1), pp. 2572866. Date of Electronic Publication: 2025 Oct 11.

Publication Type: Journal Article; Review

Journal Info: Publisher: Taylor & Francis Country of Publication: United States NLM ID: 101470897 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1933-6942 (Electronic) Linking ISSN: 19336934 NLM ISO Abbreviation: Fly (Austin) Subsets: MEDLINE

MeSH Terms: Microcephaly*/genetics , Drosophila*/genetics , Drosophila melanogaster*/genetics, Animals ; Humans ; Drosophila Proteins/genetics ; Drosophila Proteins/metabolism ; Disease Models, Animal ; Nerve Tissue Proteins/genetics ; Nerve Tissue Proteins/metabolism

SCR Disease Name: Autosomal Recessive Primary Microcephaly

Growth deficits and craniofacial dynamics in preschool children with microcephaly: A comprehensive study.

Authors: Doraiswamy A; Apollo Hospitals, Chennai, India., Sudhera N; Child Growth & Anthropology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education & Research (PGIMER), Chandigarh, India., Saini AG; Pediatric Neurology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education & Research (PGIMER), Chandigarh, India., Bhalla AK; Child Growth & Anthropology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education & Research (PGIMER), Chandigarh, India., Singhi P; Amrita Institute of Medical Sciences, Amrita Vishwa Vidyapeetham, Faridabad, India., Kaur H; Child Growth & Anthropology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education & Research (PGIMER), Chandigarh, India. Electronic address: harvinderkaur315@gmail.com.

Source: Early human development [Early Hum Dev] 2025 Nov; Vol. 210, pp. 106392. Date of Electronic Publication: 2025 Sep 04.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: Ireland NLM ID: 7708381 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-6232 (Electronic) Linking ISSN: 03783782 NLM ISO Abbreviation: Early Hum Dev Subsets: MEDLINE

MeSH Terms: Microcephaly*/epidemiology , Microcephaly*/physiopathology , Skull*/growth & development, Humans ; Male ; Female ; Child, Preschool ; Infant ; Body Height ; Body Weight ; Cephalometry ; Prospective Studies

A Novel Homozygous Frameshift Variant in the FLVCR1 Gene Is Associated With Prenatal Microcephaly, Multiple Brain Structural Anomalies, and Abnormal Foot Posture.

Authors: Chen J; Department of Medical Genetic/Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, Chengdu, China.; Key Laboratory of Obstetric & Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Chengdu, China., Wang H; Key Laboratory of Obstetric & Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Chengdu, China.; Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China., Chen X; Key Laboratory of Obstetric & Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Chengdu, China.; Department of Diagnostic Ultrasound, West China Second University Hospital, Sichuan University, Chengdu, China., Xiao Y; Department of Medical Genetic/Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, Chengdu, China.; Key Laboratory of Obstetric & Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Chengdu, China.

Source: Prenatal diagnosis [Prenat Diagn] 2025 Nov; Vol. 45 (12), pp. 1680-1683. Date of Electronic Publication: 2025 Oct 14.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

MeSH Terms: Microcephaly*/genetics , Microcephaly*/diagnostic imaging , Receptors, Virus*/genetics , Membrane Transport Proteins*/genetics , Abnormalities, Multiple*/genetics , Abnormalities, Multiple*/diagnostic imaging , Brain*/abnormalities , Brain*/diagnostic imaging , Foot Deformities, Congenital*/genetics , Foot Deformities, Congenital*/diagnostic imaging, Humans ; Female ; Pregnancy ; Frameshift Mutation ; Homozygote ; Adult ; Exome Sequencing ; Ultrasonography, Prenatal

A synonymous single nucleotide variant on the FAM20C gene causes non-lethal Raine syndrome.

Authors: Toraman B; Faculty of Medicine, Department of Medical Biology, Karadeniz Technical University, Trabzon, Turkey., Er İ; Faculty of Medicine, Department of Medical Biology, Karadeniz Technical University, Trabzon, Turkey., Kasap BK; Department of Medical Biology, Karadeniz Technical University, Institute of Health Sciences, Trabzon, Turkey., Uzun Ü; Department of Medical Biology, Karadeniz Technical University, Institute of Health Sciences, Trabzon, Turkey., Dinçer T; Faculty of Medicine, Department of Medical Biology, Karadeniz Technical University, Trabzon, Turkey., Yıldız G; Faculty of Medicine, Department of Medical Biology, Karadeniz Technical University, Trabzon, Turkey., Karagüzel G; Faculty of Medicine, Department of Paediatric Endocrinology and Diabetes, Karadeniz Technical University, Trabzon, Turkey., Kayipmaz S; Faculty of Dentistry, Department of Oral and Maxillofacial Surgery, Karadeniz Technical University, Trabzon, Turkey., Kalay E; Faculty of Medicine, Department of Medical Biology and Genetics, Karadeniz Technical University, Trabzon, Turkey.

Source: Human molecular genetics [Hum Mol Genet] 2025 Oct 05; Vol. 34 (20), pp. 1693-1704.

Publication Type: Journal Article

Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

MeSH Terms: Casein Kinase I*/genetics , Casein Kinase I*/metabolism , Osteosclerosis*/genetics , Osteosclerosis*/pathology , Cleft Palate*/genetics , Cleft Palate*/pathology , Microcephaly*/genetics , Microcephaly*/pathology , Abnormalities, Multiple*/genetics, Humans ; Male ; Female ; Pedigree ; Polymorphism, Single Nucleotide ; Golgi Apparatus/metabolism ; Golgi Apparatus/genetics ; Exome Sequencing ; Exons ; Exophthalmos ; Extracellular Matrix Proteins

SCR Disease Name: Raine syndrome

A Novel STAG2 Frameshift Variant in Mullegama-Klein-Martinez Syndrome with Complex Conotruncal Heart Defect.

Authors: Wang H; Division of Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, CA 92350, USA.

Source: Genes [Genes (Basel)] 2025 Nov 10; Vol. 16 (11). Date of Electronic Publication: 2025 Nov 10.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

MeSH Terms: Heart Defects, Congenital*/genetics , Heart Defects, Congenital*/pathology , Frameshift Mutation* , Intellectual Disability*/genetics , Intellectual Disability*/pathology , Microcephaly*/genetics, Humans ; Female ; Infant, Newborn ; Cell Cycle Proteins/genetics ; Chromosomal Proteins, Non-Histone/genetics ; Cohesins

SCR Disease Name: Conotruncal cardiac defects

Postural assessment of children with congenital Zika syndrome and caregivers in the home environment: a cross-sectional pilot study.

Authors: Tavares JS; Physiotherapist, Researcher, Instituto Assistencial Professor Joaquim Amorim Neto, Campina Grande (PB), Brazil., Regis TS; Physiotherapist, Researcher, Instituto Assistencial Professor Joaquim Amorim Neto, Campina Grande (PB), Brazil., Gama GL; Professor, Physical Therapy Department, Universidade Federal de Juiz de Fora (UFJF), Governador Valadares (MG), Brazil., Gregório JGR; Speech Therapist, Researcher, Instituto Assistencial Professor Joaquim Amorim Neto, Campina Grande (PB), Brazil., Tavares JS; Physical Education Professional, Researcher, Instituto Assistencial Professor Joaquim Amorim Neto, Campina Grande (PB), Brazil., Melo A; Physician, Researcher, Instituto Assistencial Professor Joaquim Amorim Neto, Campina Grande (PB), Brazil., Scherer D; Bachelor's in Computer Science, Professor, Center for Strategic Technologies in Health (NUTES), Universidade Estadual da Paraíba (UEPB), Campina Grande (PB), Brazil.

Source: Sao Paulo medical journal = Revista paulista de medicina [Sao Paulo Med J] 2025 Oct 13; Vol. 143 (5), pp. e2023354. Date of Electronic Publication: 2025 Oct 13 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Associação Paulista de Medicina Country of Publication: Brazil NLM ID: 100897261 Publication Model: eCollection Cited Medium: Internet ISSN: 1806-9460 (Electronic) Linking ISSN: 15163180 NLM ISO Abbreviation: Sao Paulo Med J Subsets: MEDLINE

MeSH Terms: Zika Virus Infection*/congenital , Zika Virus Infection*/physiopathology , Caregivers* , Posture*/physiology , Home Environment* , Microcephaly*/physiopathology, Humans ; Cross-Sectional Studies ; Pilot Projects ; Female ; Male ; Activities of Daily Living ; Child, Preschool ; Adult ; Brazil ; Child ; Infant ; Young Adult

Genetic Network Analyses Shed Light on the Link Between Congenital Zika Syndrome and Microcephaly.

Authors: Papakonstantinou E; Laboratory of Genetics, Department of Biotechnology, School of Applied Biology and Biotechnology, Agricultural University of Athens, Athens, Greece.; University Research Institute of Maternal and Child Health and Precision Medicine, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece., Bacopoulou F; University Research Institute of Maternal and Child Health and Precision Medicine, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece., Vlachakis D; Laboratory of Genetics, Department of Biotechnology, School of Applied Biology and Biotechnology, Agricultural University of Athens, Athens, Greece. dimitris@aua.gr.; University Research Institute of Maternal and Child Health and Precision Medicine, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece. dimitris@aua.gr.; Algorithms and Bioinformatics Group, Informatics Department, Faculty of Natural, Mathematical & Engineering Sciences, King's College London, London, UK. dimitris@aua.gr.

Source: Advances in experimental medicine and biology [Adv Exp Med Biol] 2026; Vol. 1487, pp. 523-528.

Publication Type: Journal Article

Journal Info: Publisher: Kluwer Academic/Plenum Publishers Country of Publication: United States NLM ID: 0121103 Publication Model: Print Cited Medium: Print ISSN: 0065-2598 (Print) Linking ISSN: 00652598 NLM ISO Abbreviation: Adv Exp Med Biol Subsets: MEDLINE

MeSH Terms: Zika Virus Infection*/genetics , Zika Virus Infection*/congenital , Zika Virus Infection*/virology , Zika Virus Infection*/complications , Microcephaly*/genetics , Microcephaly*/virology , Gene Regulatory Networks* , Zika Virus*/pathogenicity, Humans ; Female ; Transcriptome ; Pregnancy ; Gene Expression Profiling

Expanding the Clinical and Molecular Spectrum of Primary Autosomal Recessive Microcephaly: Novel CDK5RAP2 Gene Variants and Functional Insights on the Intronic Variants.

Authors: Yeter B; Department of Pediatric Genetics, Umraniye Training and Research Hospital, University of Health Sciences, Istanbul 34764, Türkiye., Kendir Demirkol Y; Department of Pediatric Genetics, Umraniye Training and Research Hospital, University of Health Sciences, Istanbul 34764, Türkiye., Usluer E; Department of Pediatric Genetics, Umraniye Training and Research Hospital, University of Health Sciences, Istanbul 34764, Türkiye., Görüşen Kavak İ; Department of Pediatrics, School of Medical, Marmara University, Istanbul 34899, Türkiye., Ergin SG; Intergen Genetics and Rare Disease Diagnosis Center, R&D Department, Ankara 06510, Türkiye., Elçioğlu NH; Department of Pediatric Genetics, School of Medical, Marmara University, Istanbul 34899, Türkiye.; Department of Pediatric Genetics, School of Medical, Eastern Mediterranean University, Mersin 99628, Türkiye.

Source: Genes [Genes (Basel)] 2025 Sep 23; Vol. 16 (10). Date of Electronic Publication: 2025 Sep 23.

Publication Type: Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

MeSH Terms: Microcephaly*/genetics , Microcephaly*/pathology , Nerve Tissue Proteins*/genetics , Intracellular Signaling Peptides and Proteins*/genetics , Cell Cycle Proteins*/genetics, Humans ; Male ; Female ; Introns ; Child, Preschool ; Child ; Pedigree ; Exome Sequencing ; Infant ; Mutation ; Adolescent

SCR Disease Name: Autosomal Recessive Primary Microcephaly

Development of Maternal Antibodies Post ZIKV in Pregnancy is Associated with Lower Risk of Microcephaly and Structural Brain Abnormalities in Exposed Infants.

Authors: Nielsen-Saines K; Division of Pediatric Infectious Diseases, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, USA., Kalbasi-Romero T; Division of General Internal Medicine and Health Services Research, University of California Los Angeles, Los Angeles, California, USA., Duarte ACM; Institute of Technology on Immunobiologicals, Oswaldo Cruz Foundation, Rio de Janeiro, Brazil., Almeida da Silva S; Institute of Technology on Immunobiologicals, Oswaldo Cruz Foundation, Rio de Janeiro, Brazil., Adachi K; Division of Pediatric Infectious Diseases, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, USA., Damasceno L; Acute Febrile Illness Laboratory, Evandro Chagas National Institute of Infectious Diseases, Oswaldo Cruz Foundation, Rio de Janeiro, Brazil., Kerin T; Division of Pediatric Infectious Diseases, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, USA., Fuller T; Acute Febrile Illness Laboratory, Evandro Chagas National Institute of Infectious Diseases, Oswaldo Cruz Foundation, Rio de Janeiro, Brazil.; Institute of the Environment and Sustainability, University of California Los Angeles, Los Angeles, California, USA., Deville JG; Division of Pediatric Infectious Diseases, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, USA., Moreira ME; Fernandes Figueira National Institute of Women's, Children's, and Adolescents' Health, Oswaldo Cruz Foundation, Rio de Janeiro, Brazil., Vasconcelos Z; Fernandes Figueira National Institute of Women's, Children's, and Adolescents' Health, Oswaldo Cruz Foundation, Rio de Janeiro, Brazil., Zin A; Fernandes Figueira National Institute of Women's, Children's, and Adolescents' Health, Oswaldo Cruz Foundation, Rio de Janeiro, Brazil., Shin-Sim M; Division of General Internal Medicine and Health Services Research, University of California Los Angeles, Los Angeles, California, USA., Barbosa de Lima SM; Institute of Technology on Immunobiologicals, Oswaldo Cruz Foundation, Rio de Janeiro, Brazil., Brasil P; Acute Febrile Illness Laboratory, Evandro Chagas National Institute of Infectious Diseases, Oswaldo Cruz Foundation, Rio de Janeiro, Brazil.

Source: The Journal of infectious diseases [J Infect Dis] 2025 Sep 15; Vol. 232 (3), pp. 639-648.

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0413675 Publication Model: Print Cited Medium: Internet ISSN: 1537-6613 (Electronic) Linking ISSN: 00221899 NLM ISO Abbreviation: J Infect Dis Subsets: MEDLINE

MeSH Terms: Zika Virus Infection*/immunology , Zika Virus Infection*/complications , Microcephaly*/epidemiology , Microcephaly*/virology , Antibodies, Neutralizing*/blood , Antibodies, Neutralizing*/immunology , Antibodies, Viral*/blood , Antibodies, Viral*/immunology , Pregnancy Complications, Infectious*/immunology , Pregnancy Complications, Infectious*/virology , Zika Virus*/immunology , Brain*/abnormalities, Humans ; Female ; Pregnancy ; Adult ; Infant, Newborn ; Young Adult ; Male

A Rare Cause of Primary Microcephaly: 4 New Variants in CDK5RAP2 Gene and Review of the Literature.

Authors: Erdogan M; Department of Medical Genetics, Kayseri City Hospital, Kayseri, Turkey., Unal A; Department of Medical Genetics, Antalya Training and Research Hospital, Antalya, Turkey., Dogan ME; Department of Medical Genetics, Kayseri City Hospital, Kayseri, Turkey., Oguz S; Department of Medical Genetics, Istanbul Zeynep Kamil Women and Children's Diseases Health Training and Research Center, Istanbul, Turkey., Balta B; Department of Medical Genetics, Kayseri City Hospital, Kayseri, Turkey., Ada Y; Department of Medical Genetics, Kayseri City Hospital, Kayseri, Turkey., Kiraz A; Department of Medical Genetics, Erciyes University Medical Faculty, Kayseri, Turkey., Dundar M; Department of Medical Genetics, Erciyes University Medical Faculty, Kayseri, Turkey.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Sep; Vol. 197 (9), pp. e64072. Date of Electronic Publication: 2025 Apr 17.

Publication Type: Journal Article; Review

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

MeSH Terms: Microcephaly*/genetics , Microcephaly*/pathology , Microcephaly*/diagnosis , Nerve Tissue Proteins*/genetics , Intracellular Signaling Peptides and Proteins*/genetics , Cell Cycle Proteins*/genetics , Genetic Predisposition to Disease*, Humans ; Female ; Male ; Exome Sequencing ; Child ; Child, Preschool ; Pedigree ; Mutation ; Consanguinity ; Phenotype ; Infant ; Adolescent ; Intellectual Disability/genetics ; Intellectual Disability/pathology

SCR Disease Name: Autosomal Recessive Primary Microcephaly

Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants.

Authors: Urreizti R; Clinical Biochemistry Department, Hospital Sant Joan de Déu. Institut de Recerca Sant Joan de Déu (IRSJD), Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Barcelona, Spain., Vissicchio J; Augusta University and University of Georgia Medical Partnership, Athens, Georgia, USA., Idries M; St. George's University, Department of Biochemistry, St. George's, Grenada., Cozar M; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Barcelona, Spain.; Department of Genetics, Microbiology and Statistics, Faculty of Biology, Universitat de Barcelona, IBUB, IRSJD, Barcelona, Spain., Rabionet R; Department of Genetics, Microbiology and Statistics, Faculty of Biology, Universitat de Barcelona, IBUB, IRSJD, Barcelona, Spain., Donald T; Pediatrics Ward, Grenada General Hospital, St. George's, Grenada., Bhoj EJ; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Nomakuchi TT; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Shipley SC; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Timms AE; Department of Laboratory Medicine, University of Washington, Seattle, Washington, USA., Mirzaa GM; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.; Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA., Serrano M; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Barcelona, Spain.; Pediatric Neurology Department, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu (IRSJD), Barcelona, Spain., Sobering AK; Augusta University and University of Georgia Medical Partnership, Athens, Georgia, USA.; St. George's University, Department of Biochemistry, St. George's, Grenada.; Windward Islands Research and Education Foundation, True Blue, St. George's, Grenada.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Sep; Vol. 197 (9), pp. e64095. Date of Electronic Publication: 2025 Apr 29.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

MeSH Terms: Autism Spectrum Disorder*/genetics , Autism Spectrum Disorder*/pathology , Epilepsy*/genetics , Epilepsy*/pathology , Intellectual Disability*/genetics , Intellectual Disability*/pathology , Microcephaly*/genetics , Microcephaly*/pathology , Mutation, Missense*/genetics , Tubulin*/genetics, Child, Preschool ; Female ; Humans ; Phenotype ; Adolescent