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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3399878/
https://www.ncbi.nlm.nih.gov/pubmed/22815844
http://dx.doi.org/10.1371/journal.pone.0040858

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