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A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development.
Bashamboo, Anu; Donohoue, Patricia A; Vilain, Eric; Rojo, Sandra; Calvel, Pierre; Seneviratne, Sumudu N; Buonocore, Federica; Barseghyan, Hayk; Bingham, Nathan; Rosenfeld, Jill A; Mulukutla, Surya Narayan; Jain, Mahim; Burrage, Lindsay; Dhar, Shweta; Balasubramanyam, Ashok; Lee, Brendan; Dumargne, Marie-Charlotte; Eozenou, Caroline; Suntharalingham, Jenifer P; de Silva, Ksh; Lin, Lin; Bignon-Topalovic, Joelle; Poulat, Francis; Lagos, Carlos F; McElreavey, Ken; Achermann, John C.
Affiliation
  • Bashamboo A; Human Developmental Genetics, Institut Pasteur, Paris, 75724 France.
  • Donohoue PA; Department of Pediatrics, Endocrinology & Diabetes, Medical college of Wisconsin, Milwaukee, WI, USA.
  • Vilain E; Departments of Human Genetics, Pediatrics and Urology, David Geffen School of Medicine at UCLA, CA, USA.
  • Rojo S; Human Developmental Genetics, Institut Pasteur, Paris, 75724 France.
  • Calvel P; Human Developmental Genetics, Institut Pasteur, Paris, 75724 France.
  • Seneviratne SN; Department of Pediatrics, Faculty of Medicine, University of Colombo, Colombo 08, Sri Lanka.
  • Buonocore F; Genetics & Genomic Medicine, UCL Institute of Child Health, University College London, London, UK.
  • Barseghyan H; Department of Human Genetics, David Geffen School of Medicine at UCLA, CA, USA.
  • Bingham N; Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, Vanderbilt University, Nashville, TN, USA.
  • Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, TX.
  • Mulukutla SN; Department of Medicine, Division of Diabetes, Endocrinology and Metabolism, Baylor College of Medicine, Houston TX, USA.
  • Jain M; Department of Molecular and Human Genetics, Baylor College of Medicine, TX.
  • Burrage L; Department of Molecular and Human Genetics, Baylor College of Medicine, TX.
  • Dhar S; Department of Molecular and Human Genetics, Baylor College of Medicine, TX.
  • Balasubramanyam A; Department of Medicine, Division of Diabetes, Endocrinology and Metabolism, Baylor College of Medicine, Houston TX, USA.
  • Lee B; Department of Molecular and Human Genetics, Baylor College of Medicine, TX.
  • Dumargne MC; Human Developmental Genetics, Institut Pasteur, Paris, 75724 France.
  • Eozenou C; Human Developmental Genetics, Institut Pasteur, Paris, 75724 France.
  • Suntharalingham JP; Genetics & Genomic Medicine, UCL Institute of Child Health, University College London, London, UK.
  • de Silva K; Department of Pediatrics, Faculty of Medicine, University of Colombo, Colombo 08, Sri Lanka.
  • Lin L; Genetics & Genomic Medicine, UCL Institute of Child Health, University College London, London, UK.
  • Bignon-Topalovic J; Human Developmental Genetics, Institut Pasteur, Paris, 75724 France.
  • Poulat F; Genetic and Development Department, Institute of Human Genetics, CNRS, Montpellier, France.
  • Lagos CF; Department of Endocrinology, Pontificia Universidad Católica de Chile, and Universidad San Sebastián, Santiago, Chile.
  • McElreavey K; Human Developmental Genetics, Institut Pasteur, Paris, 75724 France kenmce@pasteur.fr.
  • Achermann JC; Genetics & Genomic Medicine, UCL Institute of Child Health, University College London, London, UK.
Hum Mol Genet ; 25(16): 3446-3453, 2016 08 15.
Article in En | MEDLINE | ID: mdl-27378692
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Full text: 1 Database: MEDLINE Main subject: Primary Ovarian Insufficiency / Sexual Development / DNA-Binding Proteins / Steroidogenic Factor 1 / Disorder of Sex Development, 46,XY Limits: Adult / Child / Female / Humans / Male Language: En Year: 2016 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Primary Ovarian Insufficiency / Sexual Development / DNA-Binding Proteins / Steroidogenic Factor 1 / Disorder of Sex Development, 46,XY Limits: Adult / Child / Female / Humans / Male Language: En Year: 2016 Type: Article