A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. Human Molecular Genetics 2016, 25(16): 3446-3453.
Authors
Bashamboo, A.; Donohoue, P. A.; Vilain, E.; Rojo, S.; Calvel, P.; Seneviratne, S. N.; Buonocore, F.; Barseghyan, H.; Bingham, N.; Rosenfeld, J. A.; Mulukulta, S. N.; Jain, M.; Burrage, L.; Dhar, S.; Balasubramanyam, A.; Lee, B.; UDN, M. o.; Eozenou, C.; Suntharalingham, JP; de Silva, K.; Lin, L.; Bignon-Topalovic, J.; Poulat, F.; Lagos, CF; McElreavey, K.; Achermann, J. C.,