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Limited contribution of NR5A1 (SF-1) mutations in women with primary ovarian insufficiency (POI)

✍ Scribed by Femi Janse; Larissa M. de With; Karen J. Duran; Wigard P. Kloosterman; Angelique J. Goverde; Cornelius B. Lambalk; Joop S.E. Laven; Bart C.J.M. Fauser; Jacques C. Giltay

Book ID
116480108
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
148 KB
Volume
97
Category
Article
ISSN
1556-5653

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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