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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Veröffentlicht in:	Birth defects research. Part C. Embryo today 2016-12, Vol.108 (4), p.309-320
Hauptverfasser:	Domenice, Sorahia, Zamboni Machado, Aline, Moraes Ferreira, Frederico, Ferraz-de-Souza, Bruno, Marcondes Lerario, Antonio, Lin, Lin, Yumie Nishi, Mirian, Lisboa Gomes, Nathalia, Evelin da Silva, Thatiana, Barbosa Silva, Rosana, Vieira Correa, Rafaela, Ribeiro Montenegro, Luciana, Narciso, Amanda, Maria Frade Costa, Elaine, Achermann, John C, Bilharinho Mendonca, Berenice
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adrenal Insufficiency Adult Brazil Child Child, Preschool disorders of sex development Disorders of Sex Development - genetics Disorders of Sex Development - metabolism Female Gonadal Disorders - genetics Gonadal Disorders - metabolism gonadal dysgenesis Humans Infant Male Mutation NR5A1 gene ovotestis Phenotype primary ovarian failure Primary Ovarian Insufficiency - genetics Primary Ovarian Insufficiency - metabolism Review Reviews Steroidogenic Factor 1 - genetics Steroidogenic Factor 1 - metabolism Steroidogenic Factor 1 - physiology
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