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

@inproceedings{Allali2011MutationAO,
  title={Mutation Analysis of NR5A1 Encoding Steroidogenic Factor 1 in 77 Patients with 46, XY Disorders of Sex Development (DSD) Including Hypospadias},
  author={Slimane Allali and J Muller and Raja Brauner and Diana Lourenço and Radia Boudjenah and Vasiliki Karageorgou and Christine Trivin and Henri Bernard Lottmann and St{\'e}phen Lortat-Jacob and Claire Nihoul-F{\'e}k{\'e}t{\'e} and Olivier De Dreuzy and Ken Mcelreavey and Anu Bashamboo},
  booktitle={PloS one},
  year={2011}
}
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 patients were classified either as complete or partial gonadal dysgenesis (uterus… CONTINUE READING

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