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1Academic Journal
Authors: Noelia Baz-Redón, Laura Soler-Colomer, Mónica Fernández-Cancio, Sara Benito-Sanz, Marta Garrido, Teresa Moliné, María Clemente, Núria Camats-Tarruella, Diego Yeste
Contributors: Institut Català de la Salut, [Baz-Redón N] Grup de Recerca en Creixement i Desenvolupament, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. Departament de Pediatria, Ginecologia i Obstetrícia i Medicina Preventiva, Universitat Autònoma de Barcelona, Bellaterra, Spain. [Soler-Colomer L] Unitat d’Endocrinologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Fernández-Cancio M, Camats-Tarruella N] Grup de Recerca en Creixement i Desenvolupament, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain. [Benito-Sanz S] Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain. Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autonóma de Madrid, Madrid, Spain. [Garrido M, Moliné T] Servei d’Anatomia Patològica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Clemente M, Yeste D] Grup de Recerca en Creixement i Desenvolupament, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. Departament de Pediatria, Ginecologia i Obstetrícia i Medicina Preventiva, Universitat Autònoma de Barcelona, Bellaterra, Spain. Unitat d’Endocrinologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain, Vall d'Hebron Barcelona Hospital Campus
Source: Front Endocrinol (Lausanne)
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Frontiers in Endocrinology, Vol 13 (2022)Subject Terms: 0301 basic medicine, syndromic DSD, 46,XY different sexual development, Gonadal Dysgenesis, Diseases of the endocrine glands. Clinical endocrinology, HHAT, Trastorns del desenvolupament, 03 medical and health sciences, Endocrinology, DISEASES::Musculoskeletal Diseases::Musculoskeletal Abnormalities::Craniofacial Abnormalities::Microcephaly, case report, Humans, Hedgehog Proteins, DISEASES::Endocrine System Diseases::Gonadal Disorders::Disorders of Sex Development::Gonadal Dysgenesis, minigene studies, ENFERMEDADES::enfermedades del sistema endocrino::trastornos gonadales::trastornos del desarrollo sexual::disgenesia gonadal, Turner, Síndrome de, 0303 health sciences, Sexual Development, RC648-665, 3. Good health, Crani - Malformacions, FENÓMENOS Y PROCESOS::fenómenos fisiológicos::crecimiento y desarrollo::desarrollo sexual, Thumb, Microcephaly, PHENOMENA AND PROCESSES::Physiological Phenomena::Growth and Development::Sexual Development, ENFERMEDADES::enfermedades musculoesqueléticas::anormalidades musculoesqueléticas::anomalías craneofaciales::microcefalia, Acyltransferases
File Description: application/pdf
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2Academic Journal
Authors: Diego Yeste, Cristina Aguilar-Riera, Gennaro Canestrino, Paula Fernández-Alvarez, María Clemente, Núria Camats-Tarruella
Contributors: Institut Català de la Salut, [Yeste D, Clemente M] Unitat d’Endocrinologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain. [Aguilar-Riera C] Unitat d’Endocrinologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Canestrino G] Paediatric Endocrinology Service, Paediatric Service, Sant Joan de Déu Manresa Hospital, Manresa, Spain. [Fernández-Alvarez P] Laboratori de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Camats-Tarruella N] CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain. Grup de Recerca en Creixement i Desenvolupament, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus
Source: Front Endocrinol (Lausanne)
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Frontiers in Endocrinology, Vol 13 (2022)Subject Terms: Male, Endocrinology, Diabetes and Metabolism, ANATOMY::Urogenital System::Genitalia::Genitalia, Male::Penis, Otros calificadores::Otros calificadores::Otros calificadores::Otros calificadores::/anomalías, microphallus, Diseases of the endocrine glands. Clinical endocrinology, Hipogonadisme, 03 medical and health sciences, Endocrinology, 0302 clinical medicine, ENFERMEDADES::enfermedades del sistema endocrino::trastornos gonadales::hipogonadismo, Testis, Humans, Testosterone, hypospadias, Aparell genital masculí, Other subheadings::Other subheadings::Other subheadings::Other subheadings::/abnormalities, MAMLD1 gene, minipuberty, Hypospadias, DISEASES::Endocrine System Diseases::Gonadal Disorders::Hypogonadism, Hypogonadism, Nuclear Proteins, hypogonadotropic hypogonadism, Dihydrotestosterone, Luteinizing Hormone, RC648-665, Cromosomes sexuals - Anomalies, 3. Good health, DNA-Binding Proteins, FENÓMENOS Y PROCESOS::fenómenos fisiológicos::crecimiento y desarrollo::desarrollo sexual, different sex development (DSD), PHENOMENA AND PROCESSES::Physiological Phenomena::Growth and Development::Sexual Development, ANATOMÍA::sistema urogenital::genitales::genitales masculinos::pene, Transcription Factors
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