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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...
Autores principales: | Masliah-Planchon, Julien, Maillot, Laetitia, Rybak, Noémie, Simaga, Fatoumata, Hamza, Abderaouf, Villars, Marion Gauthier, Delattre, Olivier, Bourdeaut, Franck |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2022
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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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