RARE-22. GERMLINE PATHOGENIC VARIANT c.1552G>A;p.E518K IN DGCR8 CONFERS SUSCEPTIBILITY FOR SCHWANNOMATOSIS AND THYROID TUMORS

Germline mutations in DICER1 cause a pleiotropic susceptibility syndrome characterized by the development of pediatric or early-onset tumors including pleuropulmonary blastoma, Wilms tumors, pineoblastomas, multinodular goiter (MNG) and thyroid cancers. Somatic mutations in the other two microproces...

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Detalles Bibliográficos
Autores principales: Chong, Anne-Sophie, Nadaf, Javad, Grau, Elia, Apellaniz-Ruiz, Maria, Fahiminiya, Somayyeh, Saskin, Avi, Han, HyeRim, Turcotte, Robert, Muchantef, Karl, Thomas, Christian, Wagener, Rabea, Bassenden, Angelia, Mete, Ozgur, Pusztaszeri, Marc, Paulus, Werner, Berghuis, Albert, Siebert, Reiner, Albrecht, Steffen, Hasselblatt, Martin, Lazaro, Conxi, Teule, Alexander, Fabian, Marc, Brunet, Joan, Foulkes, William, Rivera, Barbara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Craniopharyngioma and Rare Tumors
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7715759/
http://dx.doi.org/10.1093/neuonc/noaa222.733

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