Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency

Authors:	Köhler Birgit Lin Lin Ferraz-de-Souza Bruno Wieacker Peter Heidemann Peter Schröder Vanessa Biebermann Heike Schnabel Dirk Grüters Annette Achermann John C

Affiliation:	Department of Pediatric Endocrinology, University Children's Hospital, Charité, Humboldt University, Berlin, Germany. birgit.koehler@charite.de

Abstract:

Keywords:	steroidogenic factor‐1 SF1 NR5A1 gonadal dysgenesis disorders of sex development (DSD) male pseudohermaphroditism nuclear receptor
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