Atypical teratoid/rhabdoid tumors (ATRTs) with SMARCA4 mutation are molecularly distinct from SMARCB1-deficient cases

Atypical teratoid/rhabdoid tumors (ATRTs) are very aggressive childhood malignancies of the central nervous system. The underlying genetic cause are inactivating bi-allelic mutations in SMARCB1 or (rarely) in SMARCA4. ATRT-SMARCA4 have been associated with a higher frequency of germline mutations, y...

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Publicat a:Acta Neuropathol
Autors principals: Holdhof, Dörthe, Johann, Pascal D., Spohn, Michael, Bockmayr, Michael, Safaei, Sepehr, Joshi, Piyush, Masliah-Planchon, Julien, Ho, Ben, Andrianteranagna, Mamy, Bourdeaut, Franck, Huang, Annie, Kool, Marcel, Upadhyaya, Santhosh A., Bendel, Anne E., Indenbirken, Daniela, Foulkes, William D., Bush, Jonathan W., Creytens, David, Kordes, Uwe, Frühwald, Michael C., Hasselblatt, Martin, Schüller, Ulrich
Format: Artigo
Idioma:Inglês
Publicat: Springer Berlin Heidelberg 2020
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Original Paper
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7847432/
https://ncbi.nlm.nih.gov/pubmed/33331994
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00401-020-02250-7
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