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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Hauptverfasser: 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.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Public Library of Science 2012
Schlagworte:
Research Article
Online Zugang: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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