Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency

Steroidogenic factor 1 (SF1, NR5A1) is a nuclear receptor that regulates multiple genes involved in adrenal and gonadal development, steroidogenesis, and the reproductive axis. Human mutations in SF1 were initially found in two 46,XY female patients with severe gonadal dysgenesis and primary adrenal...

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Detalles Bibliográficos
Autores principales: Köhler, Birgit, Lin, Lin, Ferraz-de-Souza, Bruno, Wieacker, Peter, Heidemann, Peter, Schröder, Vanessa, Biebermann, Heike, Schnabel, Dirk, Grüters, Annette, Achermann, John C
Formato: Texto
Lenguaje:English
Publicado: Wiley Subscription Services, Inc., A Wiley Company 2008
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2359628/
https://www.ncbi.nlm.nih.gov/pubmed/17694559
http://dx.doi.org/10.1002/humu.20588

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2359628/
https://www.ncbi.nlm.nih.gov/pubmed/17694559
http://dx.doi.org/10.1002/humu.20588

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