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

Slimane Allali; Jean-Baptiste Muller; Raja Brauner; Diana Lourenço; Radia Boudjenah; Vasiliki Karageorgou; Christine Trivin; Henri Lottmann; Stephen Lortat-Jacob; Claire Nihoul-Fékété; Olivier De Dreuzy; Ken McElreavey; Anu Bashamboo

doi:10.1371/journal.pone.0024117

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Peer-reviewed

Research Article

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

Slimane Allali ,

Contributed equally to this work with: Slimane Allali, Jean-Baptiste Muller

Affiliation Université Paris Descartes, Faculté de médecine and AP-HP, Hôpital Bicêtre, Unité d'Endocrinologie, Pédiatrique, Le Kremlin Bicêtre, France
⨯
Jean-Baptiste Muller ,

Contributed equally to this work with: Slimane Allali, Jean-Baptiste Muller

Affiliation Université Paris Descartes, Faculté de médecine and AP-HP, Hôpital Bicêtre, Unité d'Endocrinologie, Pédiatrique, Le Kremlin Bicêtre, France
⨯
Raja Brauner,

Affiliation Université Paris Descartes, Faculté de médecine and AP-HP, Hôpital Bicêtre, Unité d'Endocrinologie, Pédiatrique, Le Kremlin Bicêtre, France
⨯
Diana Lourenço,

Affiliation Human Developmental Genetics, Institut Pasteur, Paris, France
⨯
Radia Boudjenah,

Affiliation Human Developmental Genetics, Institut Pasteur, Paris, France
⨯
Vasiliki Karageorgou,

Affiliation Human Developmental Genetics, Institut Pasteur, Paris, France
⨯
Christine Trivin,

Affiliation AP-HP, Hôpital Necker-Enfants Malades, Service d'explorations fonctionnelles, Paris, France
⨯
Henri Lottmann,

Affiliation AP-HP, Hôpital Necker-Enfants Malades, Service de chirurgie viscérale pédiatrique, Paris, France
⨯
Stephen Lortat-Jacob,

Affiliation AP-HP, Hôpital Necker-Enfants Malades, Service de chirurgie viscérale pédiatrique, Paris, France
⨯
Claire Nihoul-Fékété,

Affiliation Université Paris Descartes, Paris, France
⨯
Olivier De Dreuzy,

Affiliation AP-HP, Hôpital Bicêtre, Service de Chirurgie Pédiatrique, Le Kremlin Bicêtre, France
⨯
Ken McElreavey ,

* E-mail: kenmce@pasteur.fr (KM); anu.bashamboo@pasteur.fr (AB)

Affiliation Human Developmental Genetics, Institut Pasteur, Paris, France
⨯
Anu Bashamboo

* E-mail: kenmce@pasteur.fr (KM); anu.bashamboo@pasteur.fr (AB)

Affiliation Human Developmental Genetics, Institut Pasteur, Paris, France
⨯

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

Slimane Allali,
Jean-Baptiste Muller,
Raja Brauner,
Diana Lourenço,
Radia Boudjenah,
Vasiliki Karageorgou,
Christine Trivin,
Henri Lottmann,
Stephen Lortat-Jacob,
Claire Nihoul-Fékété

Published: October 20, 2011
https://doi.org/10.1371/journal.pone.0024117

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Frameshift mutation
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Heterozygosity
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Genital anatomy
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