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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Detalhes bibliográficos
Publicado no:Birth Defects Res C Embryo Today
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2016
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Acesso em linha: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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