A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development

Affiliations

¹ Human Developmental Genetics, Institut Pasteur, Paris, 75724 France.
² Department of Pediatrics, Endocrinology & Diabetes, Medical college of Wisconsin, Milwaukee, WI, USA.
³ Departments of Human Genetics, Pediatrics and Urology, David Geffen School of Medicine at UCLA, CA, USA.
⁴ Department of Pediatrics, Faculty of Medicine, University of Colombo, Colombo 08, Sri Lanka.
⁵ Genetics & Genomic Medicine, UCL Institute of Child Health, University College London, London, UK.
⁶ Department of Human Genetics, David Geffen School of Medicine at UCLA, CA, USA.
⁷ Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, Vanderbilt University, Nashville, TN, USA.
⁸ Department of Molecular and Human Genetics, Baylor College of Medicine, TX.
⁹ Department of Medicine, Division of Diabetes, Endocrinology and Metabolism, Baylor College of Medicine, Houston TX, USA.
¹⁰ Genetic and Development Department, Institute of Human Genetics, CNRS, Montpellier, France.
¹¹ Department of Endocrinology, Pontificia Universidad Católica de Chile, and Universidad San Sebastián, Santiago, Chile.

Published Erratum

Anu Bashamboo et al. Hum Mol Genet. 2016.

. 2016 Dec 1;25(23):5286.

doi: 10.1093/hmg/ddw390.

¹ Human Developmental Genetics, Institut Pasteur, Paris, 75724 France.
² Department of Pediatrics, Endocrinology & Diabetes, Medical college of Wisconsin, Milwaukee, WI, USA.
³ Departments of Human Genetics, Pediatrics and Urology, David Geffen School of Medicine at UCLA, CA, USA.
⁴ Department of Pediatrics, Faculty of Medicine, University of Colombo, Colombo 08, Sri Lanka.
⁵ Genetics & Genomic Medicine, UCL Institute of Child Health, University College London, London, UK.
⁶ Department of Human Genetics, David Geffen School of Medicine at UCLA, CA, USA.
⁷ Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, Vanderbilt University, Nashville, TN, USA.
⁸ Department of Molecular and Human Genetics, Baylor College of Medicine, TX.
⁹ Department of Medicine, Division of Diabetes, Endocrinology and Metabolism, Baylor College of Medicine, Houston TX, USA.
¹⁰ Genetic and Development Department, Institute of Human Genetics, CNRS, Montpellier, France.
¹¹ Department of Endocrinology, Pontificia Universidad Católica de Chile, and Universidad San Sebastián, Santiago, Chile.

No abstract available

Erratum for

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development.
Bashamboo A, Donohoue PA, Vilain E, Rojo S, Calvel P, Seneviratne SN, Buonocore F, Barseghyan H, Bingham N, Rosenfeld JA, Mulukutla SN, Jain M, Burrage L, Dhar S, Balasubramanyam A, Lee B; Members of UDN; Dumargne MC, Eozenou C, Suntharalingham JP, de Silva K, Lin L, Bignon-Topalovic J, Poulat F, Lagos CF, McElreavey K, Achermann JC. Bashamboo A, et al. Hum Mol Genet. 2016 Aug 15;25(16):3446-3453. doi: 10.1093/hmg/ddw186. Epub 2016 Jul 4. Hum Mol Genet. 2016. PMID: 27378692 Free PMC article.