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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,Hayk Barseghyan,Nathan Bingham,Jill A. Rosenfeld,Surya Narayan Mulukutla,Mahim Jain,Lindsay Burrage,Shweta Dhar,Ashok Balasubramanyam,Brendan Lee,Marie-Charlotte Dumargne,Caroline Eozenou,Jenifer P. Suntharalingham,K. S. H. de Silva, Lin,Joelle Bignon-Topalovic,Francis Poulat,Carlos F. Lagos,Ken McElreavey,John C. Achermann

HUMAN MOLECULAR GENETICS（2016）

Cited 110|Views28
Key words
Androgen Receptor Gene Mutations,Temperature-Dependent Sex Determination,Sex Determination,Sexually Dimorphic Gene Expression
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