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A 46,XY Female DSD Patient with Bilateral Gonadoblastoma, a Novel SRY Missense Mutation Combined with a WT1 KTS Splice-Site Mutation
- 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
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- Published: July 18, 2012
- https://doi.org/10.1371/journal.pone.0040858