Wide spectrum of NR5A1‐related phenotypes in 46,XY and 46,XX individuals

Steroidogenic factor 1 (NR5A1, SF‐1, Ad4BP) is a transcriptional regulator of genes involved in adrenal and gonadal development and function. Mutations in NR5A1 have been among the most frequently identified genetic causes of gonadal development disorders and are associated with a wide phenotypic sp...

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Dades bibliogràfiques
Publicat a:Birth Defects Res C Embryo Today
Autors principals: Domenice, Sorahia, Machado, Aline Zamboni, Ferreira, Frederico Moraes, Ferraz‐de‐Souza, Bruno, Lerario, Antonio Marcondes, Lin, Lin, Nishi, Mirian Yumie, Gomes, Nathalia Lisboa, da Silva, Thatiana Evelin, Silva, Rosana Barbosa, Correa, Rafaela Vieira, Montenegro, Luciana Ribeiro, Narciso, Amanda, Costa, Elaine Maria Frade, Achermann, John C, Mendonca, Berenice Bilharinho
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2016
Matèries:
Reviews
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5347970/
https://ncbi.nlm.nih.gov/pubmed/28033660
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/bdrc.21145
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