Article
Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency.
Human mutation - 1 Jan 2008
Köhler Birgit, Lin Lin, Ferraz-de-Souza Bruno, Wieacker Peter, Heidemann Peter, Schröder Vanessa, Biebermann Heike, Schnabel Dirk, Grüters Annette, Achermann John C
Abstract excerpt
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 failure. However, more recent case reports have suggested that heterozygous mutations in SF1 may also be found in...
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