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ATRT-21. Contribution of germline mosaic alterations of SMARCB1 in rhabdoid tumor predisposition syndrome

Rhabdoid tumors are rare and aggressive tumors that usually arise in very young children. They are characterized by a bi-allelic inactivation of the SMARCB1 gene. Although the majority of alterations of SMARCB1 are acquired in tumors, a heterozygous germline alteration is seen in one third of patien...

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Detalles Bibliográficos
Autores principales: Masliah-Planchon, Julien, Maillot, Laetitia, Rybak, Noémie, Simaga, Fatoumata, Hamza, Abderaouf, Villars, Marion Gauthier, Delattre, Olivier, Bourdeaut, Franck
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9164641/
http://dx.doi.org/10.1093/neuonc/noac079.020

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