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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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Detalles Bibliográficos
Autores principales:	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:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2016
Materias:	Reviews
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5347970/ https://www.ncbi.nlm.nih.gov/pubmed/28033660 http://dx.doi.org/10.1002/bdrc.21145

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