Birgit Köhler Lin Lin Bruno Ferraz-de-Souza Peter Wieacker Peter Heidemann Vanessa Schröder Heike Biebermann Dirk Schnabel Annette Grüters John C Achermann
10.1002/humu.20588
Hum Mutat
2008 Jan;29(1):59-64.
CC BY
https://pubmed.ncbi.nlm.nih.gov/17694559/
Gonadal Dysgenesis, 46,XY / genetics Mutation Steroidogenic Factor 1 / genetics
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
PMC2359628
17694559
Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency
2008