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Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1
BACKGROUND: The role of germline and somatic SMARCB1 gene mutations in malignant rhabdoid tumour (MRT) predisposition is well known. Germline SMARCB1 mutations have also recently been identified in a subset of individuals with schwannomatosis. Surprisingly, MRT predisposition and schwannomatosis hav...
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| Autors principals: | , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2009
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2843150/ https://ncbi.nlm.nih.gov/pubmed/19124645 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2008.060152 |
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