Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals
N. Camats, A. V. Pandey, M. Fernández-Cancio, P. Andaluz, M. Janner, N. Torán, F. Moreno, A. Bereket, T. Akcay, E. García-García, M. T. Muñoz, R. Gracia, M. Nistal, L. Castaño, P. E. Mullis, A. Carrascosa, Laura Audí, Christa E. Flück
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