A 46,XY Female DSD Patient with Bilateral Gonadoblastoma, a Novel SRY Missense Mutation Combined with a WT1 KTS Splice-Site Mutation

Patients with Disorders of Sex Development (DSD), especially those with gonadal dysgenesis and hypovirilization are at risk of developing malignant type II germ cell tumors/cancer (GCC) (seminoma/dysgerminoma and nonseminoma), with either carcinoma in situ (CIS) or gonadoblastoma (GB) as precursor l...

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Main Authors: Hersmus, Remko, van der Zwan, Yvonne G., Stoop, Hans, Bernard, Pascal, Sreenivasan, Rajini, Oosterhuis, J. Wolter, Brüggenwirth, Hennie T., de Boer, Suzan, White, Stefan, Wolffenbuttel, Katja P., Alders, Marielle, McElreavy, Kenneth, Drop, Stenvert L. S., Harley, Vincent R., Looijenga, Leendert H. J.
פורמט: Artigo
שפה:Inglês
יצא לאור: Public Library of Science 2012
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Research Article
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC3399878/
https://ncbi.nlm.nih.gov/pubmed/22815844
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0040858
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