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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Hlavní autoři: Köhler, Birgit, Lin, Lin, Ferraz-de-Souza, Bruno, Wieacker, Peter, Heidemann, Peter, Schröder, Vanessa, Biebermann, Heike, Schnabel, Dirk, Grüters, Annette, Achermann, John C
Médium: Artigo
Jazyk:Inglês
Vydáno: Wiley Subscription Services, Inc., A Wiley Company 2008
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Research Article
On-line přístup: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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