title: A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development.
authors.affiliation: Human Developmental Genetics, Institut Pasteur, Paris, 75724 France.
authors.forename: Anu
authors.initials: A
authors.lastname: Bashamboo
authors.affiliation: Department of Pediatrics, Endocrinology & Diabetes, Medical college of Wisconsin, Milwaukee, WI, USA.
authors.forename: Patricia A
authors.initials: PA
authors.lastname: Donohoue
authors.affiliation: Departments of Human Genetics, Pediatrics and Urology, David Geffen School of Medicine at UCLA, CA, USA.
authors.forename: Eric
authors.initials: E
authors.lastname: Vilain
authors.affiliation: Human Developmental Genetics, Institut Pasteur, Paris, 75724 France.
authors.forename: Sandra
authors.initials: S
authors.lastname: Rojo
authors.affiliation: Human Developmental Genetics, Institut Pasteur, Paris, 75724 France.
authors.forename: Pierre
authors.initials: P
authors.lastname: Calvel
authors.affiliation: Department of Pediatrics, Faculty of Medicine, University of Colombo, Colombo 08, Sri Lanka.
authors.forename: Sumudu N
authors.initials: SN
authors.lastname: Seneviratne
authors.affiliation: Genetics & Genomic Medicine, UCL Institute of Child Health, University College London, London, UK.
authors.forename: Federica
authors.initials: F
authors.lastname: Buonocore
authors.affiliation: Department of Human Genetics, David Geffen School of Medicine at UCLA, CA, USA.
authors.forename: Hayk
authors.initials: H
authors.lastname: Barseghyan
authors.affiliation: Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, Vanderbilt University, Nashville, TN, USA.
authors.forename: Nathan
authors.initials: N
authors.lastname: Bingham
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, TX.
authors.forename: Jill A
authors.initials: JA
authors.lastname: Rosenfeld
authors.affiliation: Department of Medicine, Division of Diabetes, Endocrinology and Metabolism, Baylor College of Medicine, Houston TX, USA.
authors.forename: Surya Narayan
authors.initials: SN
authors.lastname: Mulukutla
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, TX.
authors.forename: Mahim
authors.initials: M
authors.lastname: Jain
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, TX.
authors.forename: Lindsay
authors.initials: L
authors.lastname: Burrage
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, TX.
authors.forename: Shweta
authors.initials: S
authors.lastname: Dhar
authors.affiliation: Department of Medicine, Division of Diabetes, Endocrinology and Metabolism, Baylor College of Medicine, Houston TX, USA.
authors.forename: Ashok
authors.initials: A
authors.lastname: Balasubramanyam
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, TX.
authors.forename: Brendan
authors.initials: B
authors.lastname: Lee
authors.affiliation: Human Developmental Genetics, Institut Pasteur, Paris, 75724 France.
authors.forename: Marie-Charlotte
authors.initials: MC
authors.lastname: Dumargne
authors.affiliation: Human Developmental Genetics, Institut Pasteur, Paris, 75724 France.
authors.forename: Caroline
authors.initials: C
authors.lastname: Eozenou
authors.affiliation: Genetics & Genomic Medicine, UCL Institute of Child Health, University College London, London, UK.
authors.forename: Jenifer P
authors.initials: JP
authors.lastname: Suntharalingham
authors.affiliation: Department of Pediatrics, Faculty of Medicine, University of Colombo, Colombo 08, Sri Lanka.
authors.forename: Ksh
authors.initials: K
authors.lastname: de Silva
authors.affiliation: Genetics & Genomic Medicine, UCL Institute of Child Health, University College London, London, UK.
authors.forename: Lin
authors.initials: L
authors.lastname: Lin
authors.affiliation: Human Developmental Genetics, Institut Pasteur, Paris, 75724 France.
authors.forename: Joelle
authors.initials: J
authors.lastname: Bignon-Topalovic
authors.affiliation: Genetic and Development Department, Institute of Human Genetics, CNRS, Montpellier, France.
authors.forename: Francis
authors.initials: F
authors.lastname: Poulat
authors.affiliation: Department of Endocrinology, Pontificia Universidad Católica de Chile, and Universidad San Sebastián, Santiago, Chile.
authors.forename: Carlos F
authors.initials: CF
authors.lastname: Lagos
authors.affiliation: Human Developmental Genetics, Institut Pasteur, Paris, 75724 France.
authors.forename: Ken
authors.initials: K
authors.lastname: McElreavey
authors.affiliation: Genetics & Genomic Medicine, UCL Institute of Child Health, University College London, London, UK.
authors.forename: John C
authors.initials: JC
authors.lastname: Achermann