A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation.

by Remko Hersmus, Yvonne G van der Zwan, Hans Stoop, Pascal Bernard, Rajini Sreenivasan, J Wolter Oosterhuis, Hennie T Brüggenwirth, Suzan de Boer, Stefan White, Katja P Wolffenbuttel, Marielle Alders, Kenneth McElreavy, Stenvert L S Drop, Vincent R Harley, Leendert H J Looijenga
Published 2012-01-01