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Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?
Camats, Núria; Fernández-Cancio, Mónica; Audí, Laura; Schaller, André; Flück, Christa E.
Afiliação
  • Camats N; Pediatric Endocrinology and Diabetology, Department of Pediatrics and Department of Biomedical Research, University Children's Hospital Bern, 3010, Bern, Switzerland. nuria.camats@vhir.org.
  • Fernández-Cancio M; Growth and Development Research Unit, Vall d'Hebron Research Institute (VHIR), Center for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 08035, Barcelona, Catalonia, Spain. nuria.camats@vhir.org.
  • Audí L; Growth and Development Research Unit, Vall d'Hebron Research Institute (VHIR), Center for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 08035, Barcelona, Catalonia, Spain.
  • Schaller A; Growth and Development Research Unit, Vall d'Hebron Research Institute (VHIR), Center for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 08035, Barcelona, Catalonia, Spain.
  • Flück CE; Division of Human Genetics, Department of Pediatrics and Department of Biomedical Research, Inselspital, Bern University Hospital, University of Bern, 3010, Bern, Switzerland.
Eur J Hum Genet ; 26(9): 1329-1338, 2018 09.
Article em En | MEDLINE | ID: mdl-29891883
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Herança Multifatorial / Fator Esteroidogênico 1 / Transtorno 46,XY do Desenvolvimento Sexual Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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XML
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Herança Multifatorial / Fator Esteroidogênico 1 / Transtorno 46,XY do Desenvolvimento Sexual Idioma: En Ano de publicação: 2018 Tipo de documento: Article