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Human Male Infertility Associated with Mutations in NR5A1Encoding Steroidogenic Factor 1

✍ Scribed by Anu Bashamboo; Bruno Ferraz-de-Souza; Diana Lourenço; Lin Lin; Neil J. Sebire; Debbie Montjean; Joelle Bignon-Topalovic; Jacqueline Mandelbaum; Jean-Pierre Siffroi; Sophie Christin-Maitre; Uppala Radhakrishna; Hassan Rouba; Celia Ravel; Jacob Seeler; John C. Achermann; Ken McElreavey

Book ID
113422956
Publisher
American Society of Human Genetics
Year
2010
Tongue
English
Weight
31 KB
Volume
87
Category
Article
ISSN
0002-9297

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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