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Steroidogenic factor-1 (SF-1, NR5A1) and human disease

✍ Scribed by Bruno Ferraz-de-Souza; Lin Lin; John C. Achermann

Book ID
116734908
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
874 KB
Volume
336
Category
Article
ISSN
0303-7207

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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 adr