Mutation Analysis of NR5A1 Encoding Steroidogenic Factor 1 in 77 Patients with 46, XY Disorders of Sex Development (DSD) Including Hypospadias

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 mutatio...

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Bibliografiska uppgifter
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: Public Library of Science 2011
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3197579/
https://ncbi.nlm.nih.gov/pubmed/22028768
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0024117
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