Article ISI
HUMAN MOLECULAR GENETICS  (2016)

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

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, J. P.; de Silva, K.; Lin, L.; Bignon-Topalovic, J.; Poulat, F.; Lagos, C. F.; McElreavey, K.; Achermann, J. C.