Article
Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias.
PloS one - 1 Jan 2011
Allali Slimane, Muller Jean-Baptiste, Brauner Raja, Lourenço Diana, Boudjenah Radia, Karageorgou Vasiliki, Trivin Christine, Lottmann Henri, Lortat-Jacob Stephen, Nihoul-Fékété Claire, De Dreuzy Olivier, McElreavey Ken, Bashamboo Anu
Abstract excerpt
BACKGROUND: Mutations of the NR5A1 gene encoding steroidogenic factor-1 have been reported in association with a wide spectrum of 46,XY DSD (Disorder of Sex Development) phenotypes including severe forms of hypospadias. METHODOLOGY/PRINCIPAL FINDINGS: We evaluated the frequency of NR5A1 gene mutations in a large series of patients presenting with 46,XY DSD and hypospadias. Based on their clinical presentation 77...
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