Structure of SF1 including the position of SF1 mutations in 46,XYpatients with disorders of sex development

p.G35E and p.R92Q are the first mutations described in SF1 in 46,XY individuals with gonadal dysgenesis and adrenal failure. p.R255L was found in a normal 46,XX female with adrenal failure.The othermutations have been identified in individuals with 46,XY DSD without adrenal insufficiency.The five novel mutations reported here are boxed. DNA RefSeq NM_004959.3.<p><b>Copyright information:</b></p><p>Taken from "Five novel mutations in steroidogenic factor 1 (SF1, ) in 46,XY patients with severe underandrogenization but without adrenal insufficiency"</p><p></p><p>Human Mutation 2008;29(1):59-64.</p><p>Published online Jan 2008</p><p>PMCID:PMC2359628.</p><p>Copyright © 2008 Wiley-Liss, Inc., A Wiley Company