Application of the New Classification on Patients with a Disorder of Sex Development in Indonesia

by A. Zulfa Juniarto, Yvonne G. van der Zwan, Ardy Santosa, Remko Hersmus, Frank H. de Jong, Renske Olmer, Hennie T. Bruggenwirth, Axel P. N. Themmen, Katja P. Wolffenbuttel, Leendert H. J. Looijenga, Sultana M. H. Faradz, Stenvert L. S. Drop
Published 2012-01-01

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

The Diagnostic Journey of a Patient with Prader–Willi-Like Syndrome and a Unique Homozygous <i>SNURF-SNRPN</i> Variant; Bio-Molecular Analysis and Review of the Literature

by Karlijn Pellikaan, Geeske M. van Woerden, Lotte Kleinendorst, Anna G. W. Rosenberg, Bernhard Horsthemke, Christian Grosser, Laura J. C. M. van Zutven, Elisabeth F. C. van Rossum, Aart J. van der Lely, James L. Resnick, Hennie T. Brüggenwirth, Mieke M. van Haelst, Laura C. G. de Graaff
Published 2021-06-01