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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:Birth Defects Res C Embryo Today
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2016
Soggetti:
Reviews
Accesso online: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
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi