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- Title
Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias.
- Authors
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
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.
- Publication
PloS one, 2011, Vol 6, Issue 10, pe24117
- ISSN
1932-6203
- Publication type
Journal Article
- DOI
10.1371/journal.pone.0024117