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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Köhler, Birgit, Lin, Lin, Ferraz-de-Souza, Bruno, Wieacker, Peter, Heidemann, Peter, Schröder, Vanessa, Biebermann, Heike, Schnabel, Dirk, Grüters, Annette, Achermann, John C
Formatua: Artikulua
Hizkuntza:English
Argitaratua: Wiley Subscription Services, Inc., A Wiley Company 2008
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC2359628/
https://ncbi.nlm.nih.gov/pubmed/17694559
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.20588
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Internet

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

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