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High-Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient-Reported Data.

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Τίτλος: High-Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient-Reported Data.
Συγγραφείς: George AM; Division of Genetic and Genomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Duki BT; Division of Genetic and Genomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Katz ZS; Division of Genetic and Genomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Viswanathan A; Division of Genetic and Genomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., MacFarland SP; Division of Oncology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Hathaway ER; Division of Genetic and Genomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Monahan C; Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Morris J; International WAGR Syndrome Association, Montgomery Village, Maryland, USA., Trout KL; International WAGR Syndrome Association, Montgomery Village, Maryland, USA., Krantz SM; International WAGR Syndrome Association, Montgomery Village, Maryland, USA., Ganguly A; Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Kalish JM; Division of Genetic and Genomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Πηγή: American journal of medical genetics. Part A [Am J Med Genet A] 2026 Sep; Vol. 200 (9), pp. 1989-1999. Date of Electronic Publication: 2026 Apr 12.
Τύπος έκδοσης: Journal Article
Γλώσσα: English
Στοιχεία περιοδικού: 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
Imprint Name(s): Publication: Hoboken, N.J. : Wiley-Blackwell
Original Publication: Hoboken, N.J. : Wiley-Liss, c2003-
Ιατρικοί όροι (MeSH): WAGR Syndrome*/genetics , WAGR Syndrome*/diagnosis , WAGR Syndrome*/pathology, Chromosomes, Human, Pair 11/genetics ; Polymorphism, Single Nucleotide/genetics ; Wilms Tumor/genetics ; Humans ; Female ; Comparative Genomic Hybridization ; Male ; Chromosome Deletion ; Cohort Studies ; Child, Preschool ; Phenotype ; Genetic Association Studies ; Infant ; Child ; Genomics
Περίληψη: WAGR spectrum disorder (WAGRSD) is an ultra-rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends well beyond this tetrad. To improve diagnostic resolution, we developed and validated a high-density custom CGH-SNP array for precise breakpoint mapping of 11p13. We present a molecularly confirmed cohort of 23 new patients and integrate these with 91 published cases, forming the largest combined cohort to date (N = 114) with detailed genotype-phenotype information. Key findings include: (1) the custom array provided superior genomic resolution compared to standard clinical arrays; (2) seven patients (6.1%) were found to have a dual diagnosis of WAGRSD and Potocki-Shaffer syndrome (PSS)-a contiguous-gene syndrome characterized by multiple osteochondromas that requires distinct surveillance; (3) in 42 patients with fully defined deletions (n = 42, 38% of the cohort), no statistically significant association was observed between deletion of LMO2 (or other candidate genes) and Wilms tumor risk; and (4) phenotypic frequencies in this medically validated cohort closely aligned with prior caregiver-reported registry data, validating patient-driven registries as a reliable resource for rare disease research. Together, these findings underscore the necessity of high-resolution genomic testing to guide counseling, refine anticipatory management-including screening for PSS-related complications-and expand the phenotypic understanding of 11p13 deletion disorders.
(© 2026 The Author(s). American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)
References: Brémond‐Gignac, D. , M. Gérard‐Blanluet , H. Copin , et al. 2005. “Three Patients With Hallucal Polydactyly and WAGR Syndrome, Including Discordant Expression of Wilms Tumor in MZ Twins.” American Journal of Medical Genetics. Part A 134, no. 4: 422–425. https://doi.org/10.1002/ajmg.a.30646.
Chbel, F. , H. Hamdaoui , H. Mossafa , K. Ouldim , and H. Benrahma . 2024. “Conventional and Molecular Cytogenetic Characterization of a Moroccan Patient With WAGR Syndrome.” Egyptian Journal of Medical Human Genetics 25, no. 1: 37. https://doi.org/10.1186/s43042‐024‐00514‐5.
Clericuzio, C. , M. Hingorani , J. A. Crolla , V. van Heyningen , and A. Verloes . 2011. “Clinical Utility Gene Card for: WAGR Syndrome.” European Journal of Human Genetics: EJHG 19, no. 4: 492. https://doi.org/10.1038/ejhg.2010.220.
de Souza, V. S. , G. C. R. da Cunha , B. R. Versiani , et al. 2022. “Characterization of Associated Nonclassical Phenotypes in Patients With Deletion in the WAGR Region Identified by Chromosomal Microarray: New Insights and Literature Review.” Molecular Syndromology 13, no. 4: 290–304. https://doi.org/10.1159/000518872.
Delplancq, G. , M. A. Boukebir , D. Amsallem , et al. 2022. “The Largest Germline Heterozygous Deletion Encompassing Potocki‐Shaffer and WAGR Syndromes Loci to Date: A Case Report.” Neuropediatrics 53, no. 4: 274–278. https://doi.org/10.1055/s‐0041‐1740357.
Duffy, K. A. , K. L. Trout , J. M. Gunckle , S. M. Krantz , J. Morris , and J. M. Kalish . 2021. “Results From the WAGR Syndrome Patient Registry: Characterization of WAGR Spectrum and Recommendations for Care Management.” Frontiers in Pediatrics 9: 733018. https://doi.org/10.3389/fped.2021.733018.
Fischbach, B. V. , K. L. Trout , J. Lewis , C. A. Luis , and M. Sika . 2005. “WAGR Syndrome: A Clinical Review of 54 Cases.” Pediatrics 116, no. 4: 984–988. https://doi.org/10.1542/peds.2004‐0467.
Gnoli, M. , M. Gambarotti , A. Righi , et al. 2024. “Secondary Peripheral Chondrosarcoma in Multiple Osteochondromas: A Retrospective Single‐Institution Case Series.” Orphanet Journal of Rare Diseases 19, no. 1: 63. https://doi.org/10.1186/s13023‐023‐03006‐8.
Hampl, S. E. , S. G. Hassink , A. C. Skinner , et al. 2023. “Clinical Practice Guideline for the Evaluation and Treatment of Children and Adolescents With Obesity.” Pediatrics 151, no. 2: e2022060640. https://doi.org/10.1542/peds.2022‐060640.
Han, J. C. , Q.‐R. Liu , M. Jones , et al. 2008. “Brain‐Derived Neurotrophic Factor and Obesity in the WAGR Syndrome.” New England Journal of Medicine 359, no. 9: 918–927. https://doi.org/10.1056/NEJMoa0801119.
Han, J. C. , A. Thurm , C. Golden Williams , et al. 2013. “Association of Brain‐Derived Neurotrophic Factor (BDNF) Haploinsufficiency With Lower Adaptive Behaviour and Reduced Cognitive Functioning in WAGR/11p13 Deletion Syndrome.” Cortex 49, no. 10: 2700–2710. https://doi.org/10.1016/j.cortex.2013.02.009.
Marakhonov, A. V. , T. A. Vasilyeva , A. A. Voskresenskaya , et al. 2019. “LMO2 Gene Deletions Significantly Worsen the Prognosis of Wilms' Tumor Development in Patients With WAGR Syndrome.” Human Molecular Genetics 28, no. 19: 3323–3326. https://doi.org/10.1093/hmg/ddz168.
Michaeli, O. , S. Y. Kim , S. G. Mitchell , et al. 2025. “Update on Cancer Screening in Children With Syndromes of Bone Lesions, Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome, and Other Rare Syndromes.” Clinical Cancer Research: An Official Journal of the American Association for Cancer Research 31, no. 3: 457–465. https://doi.org/10.1158/1078‐0432.CCR‐24‐2171.
Miller, R. W. , J. F. Fraumeni , and M. D. Manning . 1964. “Association of Wilms's Tumor With Aniridia, Hemihypertrophy and Other Congenital Malformations.” New England Journal of Medicine 270: 922–927. https://doi.org/10.1056/NEJM196404302701802.
Rodan, L. H. , J. Stoler , E. Chen , T. Geleske , and Council on, G. 2025. “Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay: Clinical Report.” Pediatrics 156, no. 1: e2025072219. https://doi.org/10.1542/peds.2025‐072219.
Seaver, L. H. , M. Irons , and American College of Medical Genetics Professional, P., & Guidelines, C. 2009. “ACMG Practice Guideline: Genetic Evaluation of Short Stature.” Genetics in Medicine: Official Journal of the American College of Medical Genetics 11, no. 6: 465–470. https://doi.org/10.1097/GIM.0b013e3181a7e8f8.
Shen, L. , L. Chen , Y. Tang , et al. 2025. “PRRG4 Brain‐Specific Conditional Knockout Mice Display Autism Spectrum Disorder‐Like Behaviors.” Biological Procedures Online 27, no. 1: 16. https://doi.org/10.1186/s12575‐025‐00280‐7.
Tracy, E. T. , H. Leraas , L. Olson , R. C. Shamberger , and P. F. Ehrlich . 2024. “Wilms Tumor Characteristics, Surgical Management, Outcomes, and Chronic Kidney Disease in Children with WAGR Syndrome: A Report from the International WAGR Syndrome Association Survey.” Pediatr Blood Cancer 71, no. 9: e31172. https://doi.org/10.1002/pbc.31172.
Wang, Q. , X. Zhang , T. Qin , et al. 2022. “Unusual Presentation in WAGR Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Diseases.” Genes 13, no. 8: 1431. https://doi.org/10.3390/genes13081431.
Wuyts, W. , G. A. Schmale , H. A. Chansky , and W. H. Raskind . 1993. “Hereditary Multiple Osteochondromas.” In GeneReviews, edited by M. P. Adam , S. Bick , G. M. Mirzaa , R. A. Pagon , S. E. Wallace , and A. Amemiya . University of Washington, Seattle. http://www.ncbi.nlm.nih.gov/pubmed/20301413.
Yamamoto, T. , M. Togawa , S. Shimada , N. Sangu , K. Shimojima , and N. Okamoto . 2014. “Narrowing of the Responsible Region for Severe Developmental Delay and Autistic Behaviors in WAGR Syndrome Down to 1.6 Mb Including PAX6, WT1, and PRRG4.” American Journal of Medical Genetics. Part A 164A, no. 3: 634–638. https://doi.org/10.1002/ajmg.a.36325.
Zubler, J. M. , L. D. Wiggins , M. M. Macias , et al. 2022. “Evidence‐Informed Milestones for Developmental Surveillance Tools.” Pediatrics 149, no. 3: e2021052138. https://doi.org/10.1542/peds.2021‐052138.
Grant Information: International WAGR Syndrome Association; Miranda's Mission; WAGR Warriors; Miranda Morris WAGR Spectrum Research Fund at the Children's Hospital of Philadelphia
Contributed Indexing: Keywords: 11p13 deletion; WAGR spectrum disorder (WAGRSD); WAGR syndrome; Wilms tumor; high resolution genomic array
Entry Date(s): Date Created: 20260413 Date Completed: 20260804 Latest Revision: 20260804
Update Code: 20260804
DOI: 10.1002/ajmg.a.70159
PMID: 41968606
Βάση Δεδομένων: MEDLINE
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  Data: High-Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient-Reported Data.
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  Data: <searchLink fieldCode="AU" term="%22George+AM%22">George AM</searchLink>; Division of Genetic and Genomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Duki+BT%22">Duki BT</searchLink>; Division of Genetic and Genomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Katz+ZS%22">Katz ZS</searchLink>; Division of Genetic and Genomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Viswanathan+A%22">Viswanathan A</searchLink>; Division of Genetic and Genomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22MacFarland+SP%22">MacFarland SP</searchLink>; Division of Oncology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Hathaway+ER%22">Hathaway ER</searchLink>; Division of Genetic and Genomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Monahan+C%22">Monahan C</searchLink>; Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Morris+J%22">Morris J</searchLink>; International WAGR Syndrome Association, Montgomery Village, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Trout+KL%22">Trout KL</searchLink>; International WAGR Syndrome Association, Montgomery Village, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Krantz+SM%22">Krantz SM</searchLink>; International WAGR Syndrome Association, Montgomery Village, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Ganguly+A%22">Ganguly A</searchLink>; Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Kalish+JM%22">Kalish JM</searchLink>; Division of Genetic and Genomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
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  Data: <searchLink fieldCode="MM" term="%22WAGR+Syndrome%22">WAGR Syndrome*</searchLink>/<searchLink fieldCode="MM" term="%22WAGR+Syndrome+genetics%22">genetics</searchLink> <br /><searchLink fieldCode="MM" term="%22WAGR+Syndrome%22">WAGR Syndrome*</searchLink>/<searchLink fieldCode="MM" term="%22WAGR+Syndrome+diagnosis%22">diagnosis</searchLink> <br /><searchLink fieldCode="MM" term="%22WAGR+Syndrome%22">WAGR Syndrome*</searchLink>/<searchLink fieldCode="MM" term="%22WAGR+Syndrome+pathology%22">pathology</searchLink><br /><searchLink fieldCode="MH" term="%22Chromosomes%2C+Human%2C+Pair+11%22">Chromosomes, Human, Pair 11</searchLink>/<searchLink fieldCode="MH" term="%22Chromosomes%2C+Human%2C+Pair+11+genetics%22">genetics</searchLink> ; <searchLink fieldCode="MH" term="%22Polymorphism%2C+Single+Nucleotide%22">Polymorphism, Single Nucleotide</searchLink>/<searchLink fieldCode="MH" term="%22Polymorphism%2C+Single+Nucleotide+genetics%22">genetics</searchLink> ; <searchLink fieldCode="MH" term="%22Wilms+Tumor%22">Wilms Tumor</searchLink>/<searchLink fieldCode="MH" term="%22Wilms+Tumor+genetics%22">genetics</searchLink> ; <searchLink fieldCode="MH" term="%22Humans%22">Humans</searchLink> ; <searchLink fieldCode="MH" term="%22Female%22">Female</searchLink> ; <searchLink fieldCode="MH" term="%22Comparative+Genomic+Hybridization%22">Comparative Genomic Hybridization</searchLink> ; <searchLink fieldCode="MH" term="%22Male%22">Male</searchLink> ; <searchLink fieldCode="MH" term="%22Chromosome+Deletion%22">Chromosome Deletion</searchLink> ; <searchLink fieldCode="MH" term="%22Cohort+Studies%22">Cohort Studies</searchLink> ; <searchLink fieldCode="MH" term="%22Child%2C+Preschool%22">Child, Preschool</searchLink> ; <searchLink fieldCode="MH" term="%22Phenotype%22">Phenotype</searchLink> ; <searchLink fieldCode="MH" term="%22Genetic+Association+Studies%22">Genetic Association Studies</searchLink> ; <searchLink fieldCode="MH" term="%22Infant%22">Infant</searchLink> ; <searchLink fieldCode="MH" term="%22Child%22">Child</searchLink> ; <searchLink fieldCode="MH" term="%22Genomics%22">Genomics</searchLink>
– Name: Abstract
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  Data: WAGR spectrum disorder (WAGRSD) is an ultra-rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends well beyond this tetrad. To improve diagnostic resolution, we developed and validated a high-density custom CGH-SNP array for precise breakpoint mapping of 11p13. We present a molecularly confirmed cohort of 23 new patients and integrate these with 91 published cases, forming the largest combined cohort to date (N = 114) with detailed genotype-phenotype information. Key findings include: (1) the custom array provided superior genomic resolution compared to standard clinical arrays; (2) seven patients (6.1%) were found to have a dual diagnosis of WAGRSD and Potocki-Shaffer syndrome (PSS)-a contiguous-gene syndrome characterized by multiple osteochondromas that requires distinct surveillance; (3) in 42 patients with fully defined deletions (n = 42, 38% of the cohort), no statistically significant association was observed between deletion of LMO2 (or other candidate genes) and Wilms tumor risk; and (4) phenotypic frequencies in this medically validated cohort closely aligned with prior caregiver-reported registry data, validating patient-driven registries as a reliable resource for rare disease research. Together, these findings underscore the necessity of high-resolution genomic testing to guide counseling, refine anticipatory management-including screening for PSS-related complications-and expand the phenotypic understanding of 11p13 deletion disorders.<br /> (© 2026 The Author(s). American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)
– Name: Ref
  Label: References
  Group: RefInfo
  Data: Brémond‐Gignac, D. , M. Gérard‐Blanluet , H. Copin , et al. 2005. “Three Patients With Hallucal Polydactyly and WAGR Syndrome, Including Discordant Expression of Wilms Tumor in MZ Twins.” American Journal of Medical Genetics. Part A 134, no. 4: 422–425. https://doi.org/10.1002/ajmg.a.30646.<br />Chbel, F. , H. Hamdaoui , H. Mossafa , K. Ouldim , and H. Benrahma . 2024. “Conventional and Molecular Cytogenetic Characterization of a Moroccan Patient With WAGR Syndrome.” Egyptian Journal of Medical Human Genetics 25, no. 1: 37. https://doi.org/10.1186/s43042‐024‐00514‐5.<br />Clericuzio, C. , M. Hingorani , J. A. Crolla , V. van Heyningen , and A. Verloes . 2011. “Clinical Utility Gene Card for: WAGR Syndrome.” European Journal of Human Genetics: EJHG 19, no. 4: 492. https://doi.org/10.1038/ejhg.2010.220.<br />de Souza, V. S. , G. C. R. da Cunha , B. R. Versiani , et al. 2022. “Characterization of Associated Nonclassical Phenotypes in Patients With Deletion in the WAGR Region Identified by Chromosomal Microarray: New Insights and Literature Review.” Molecular Syndromology 13, no. 4: 290–304. https://doi.org/10.1159/000518872.<br />Delplancq, G. , M. A. Boukebir , D. Amsallem , et al. 2022. “The Largest Germline Heterozygous Deletion Encompassing Potocki‐Shaffer and WAGR Syndromes Loci to Date: A Case Report.” Neuropediatrics 53, no. 4: 274–278. https://doi.org/10.1055/s‐0041‐1740357.<br />Duffy, K. A. , K. L. Trout , J. M. Gunckle , S. M. Krantz , J. Morris , and J. M. Kalish . 2021. “Results From the WAGR Syndrome Patient Registry: Characterization of WAGR Spectrum and Recommendations for Care Management.” Frontiers in Pediatrics 9: 733018. https://doi.org/10.3389/fped.2021.733018.<br />Fischbach, B. V. , K. L. Trout , J. Lewis , C. A. Luis , and M. Sika . 2005. “WAGR Syndrome: A Clinical Review of 54 Cases.” Pediatrics 116, no. 4: 984–988. https://doi.org/10.1542/peds.2004‐0467.<br />Gnoli, M. , M. Gambarotti , A. Righi , et al. 2024. “Secondary Peripheral Chondrosarcoma in Multiple Osteochondromas: A Retrospective Single‐Institution Case Series.” Orphanet Journal of Rare Diseases 19, no. 1: 63. https://doi.org/10.1186/s13023‐023‐03006‐8.<br />Hampl, S. E. , S. G. Hassink , A. C. Skinner , et al. 2023. “Clinical Practice Guideline for the Evaluation and Treatment of Children and Adolescents With Obesity.” Pediatrics 151, no. 2: e2022060640. https://doi.org/10.1542/peds.2022‐060640.<br />Han, J. C. , Q.‐R. Liu , M. Jones , et al. 2008. “Brain‐Derived Neurotrophic Factor and Obesity in the WAGR Syndrome.” New England Journal of Medicine 359, no. 9: 918–927. https://doi.org/10.1056/NEJMoa0801119.<br />Han, J. C. , A. Thurm , C. Golden Williams , et al. 2013. “Association of Brain‐Derived Neurotrophic Factor (BDNF) Haploinsufficiency With Lower Adaptive Behaviour and Reduced Cognitive Functioning in WAGR/11p13 Deletion Syndrome.” Cortex 49, no. 10: 2700–2710. https://doi.org/10.1016/j.cortex.2013.02.009.<br />Marakhonov, A. V. , T. A. Vasilyeva , A. A. Voskresenskaya , et al. 2019. “LMO2 Gene Deletions Significantly Worsen the Prognosis of Wilms' Tumor Development in Patients With WAGR Syndrome.” Human Molecular Genetics 28, no. 19: 3323–3326. https://doi.org/10.1093/hmg/ddz168.<br />Michaeli, O. , S. Y. Kim , S. G. Mitchell , et al. 2025. “Update on Cancer Screening in Children With Syndromes of Bone Lesions, Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome, and Other Rare Syndromes.” Clinical Cancer Research: An Official Journal of the American Association for Cancer Research 31, no. 3: 457–465. https://doi.org/10.1158/1078‐0432.CCR‐24‐2171.<br />Miller, R. W. , J. F. Fraumeni , and M. D. Manning . 1964. “Association of Wilms's Tumor With Aniridia, Hemihypertrophy and Other Congenital Malformations.” New England Journal of Medicine 270: 922–927. https://doi.org/10.1056/NEJM196404302701802.<br />Rodan, L. H. , J. Stoler , E. Chen , T. Geleske , and Council on, G. 2025. “Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay: Clinical Report.” Pediatrics 156, no. 1: e2025072219. https://doi.org/10.1542/peds.2025‐072219.<br />Seaver, L. H. , M. Irons , and American College of Medical Genetics Professional, P., & Guidelines, C. 2009. “ACMG Practice Guideline: Genetic Evaluation of Short Stature.” Genetics in Medicine: Official Journal of the American College of Medical Genetics 11, no. 6: 465–470. https://doi.org/10.1097/GIM.0b013e3181a7e8f8.<br />Shen, L. , L. Chen , Y. Tang , et al. 2025. “PRRG4 Brain‐Specific Conditional Knockout Mice Display Autism Spectrum Disorder‐Like Behaviors.” Biological Procedures Online 27, no. 1: 16. https://doi.org/10.1186/s12575‐025‐00280‐7.<br />Tracy, E. T. , H. Leraas , L. Olson , R. C. Shamberger , and P. F. Ehrlich . 2024. “Wilms Tumor Characteristics, Surgical Management, Outcomes, and Chronic Kidney Disease in Children with WAGR Syndrome: A Report from the International WAGR Syndrome Association Survey.” Pediatr Blood Cancer 71, no. 9: e31172. https://doi.org/10.1002/pbc.31172.<br />Wang, Q. , X. Zhang , T. Qin , et al. 2022. “Unusual Presentation in WAGR Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Diseases.” Genes 13, no. 8: 1431. https://doi.org/10.3390/genes13081431.<br />Wuyts, W. , G. A. Schmale , H. A. Chansky , and W. H. Raskind . 1993. “Hereditary Multiple Osteochondromas.” In GeneReviews, edited by M. P. Adam , S. Bick , G. M. Mirzaa , R. A. Pagon , S. E. Wallace , and A. Amemiya . University of Washington, Seattle. http://www.ncbi.nlm.nih.gov/pubmed/20301413.<br />Yamamoto, T. , M. Togawa , S. Shimada , N. Sangu , K. Shimojima , and N. Okamoto . 2014. “Narrowing of the Responsible Region for Severe Developmental Delay and Autistic Behaviors in WAGR Syndrome Down to 1.6 Mb Including PAX6, WT1, and PRRG4.” American Journal of Medical Genetics. Part A 164A, no. 3: 634–638. https://doi.org/10.1002/ajmg.a.36325.<br />Zubler, J. M. , L. D. Wiggins , M. M. Macias , et al. 2022. “Evidence‐Informed Milestones for Developmental Surveillance Tools.” Pediatrics 149, no. 3: e2021052138. https://doi.org/10.1542/peds.2021‐052138.
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  Data: International WAGR Syndrome Association; Miranda's Mission; WAGR Warriors; Miranda Morris WAGR Spectrum Research Fund at the Children's Hospital of Philadelphia
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  Data: <i>Keywords: </i>11p13 deletion; WAGR spectrum disorder (WAGRSD); WAGR syndrome; Wilms tumor; high resolution genomic array
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        Text: English
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        StartPage: 1989
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      – SubjectFull: Chromosomes, Human, Pair 11 genetics
        Type: general
      – SubjectFull: Polymorphism, Single Nucleotide genetics
        Type: general
      – SubjectFull: Wilms Tumor genetics
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      – SubjectFull: Humans
        Type: general
      – SubjectFull: Female
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      – SubjectFull: Male
        Type: general
      – SubjectFull: Chromosome Deletion
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      – SubjectFull: Cohort Studies
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      – SubjectFull: Child, Preschool
        Type: general
      – SubjectFull: Phenotype
        Type: general
      – SubjectFull: Genetic Association Studies
        Type: general
      – SubjectFull: Infant
        Type: general
      – SubjectFull: Child
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      – SubjectFull: Genomics
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      – SubjectFull: WAGR Syndrome genetics
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      – TitleFull: High-Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient-Reported Data.
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            – D: 01
              M: 09
              Text: 2026 Sep
              Type: published
              Y: 2026
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            – TitleFull: American journal of medical genetics. Part A
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