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

Anu Bashamboo, Patricia A Donohoue, Eric Vilain, Sandra Rojo, Pierre Calvel, Sumudu N Seneviratne, Federica Buonocore, HaykBarseghyan, Nathan Bingham, Jill A Rosenfeld, Surya Narayan Mulukulta, Mahim Jain, Lindsay Burrage, ShwetaDhar, Ashok Balasubramanyam, Brendan Lee, Caroline Eozenou, Jenifer P Suntharalingham, KSH deSilva, Lin Lin, Joelle Bignon-Topalovic,Francis Poulat, Carlos F Lagos, Ken McElreavey, John C Achermann
Human Molecular Genetics 2016;25(16):3446-3453
Publication year: 2016
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