article_metadata: Birgit Köhler Lin Lin Bruno Ferraz-de-Souza Peter Wieacker Peter Heidemann Vanessa Schröder Heike Biebermann Dirk Schnabel Annette Grüters John C Achermann
article_metadata: 10.1002/humu.20588
article_metadata: Hum Mutat
article_metadata: 2008 Jan;29(1):59-64.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/17694559/
article_metadata: Gonadal Dysgenesis, 46,XY / genetics Mutation Steroidogenic Factor 1 / genetics
article_metadata: Gonadal Dysgenesis, 46,XY / genetics Mutation Steroidogenic Factor 1 / genetics Case Reports Research Support, Non-U.S. Gov't Adolescent Adrenal Glands / metabolism Adrenal Insufficiency / diagnosis Adult Child Child, Preschool Cohort Studies Female Gonadal Dysgenesis, 46,XY / diagnosis Humans Steroidogenic Factor 1 / analysis NR5A1 protein, human Steroidogenic Factor 1
article_metadata: PMC2359628
article_metadata: 17694559
article_metadata: Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency
article_metadata: 2008