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.