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      Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors.

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          Abstract

          Germline mutations and deletions of SMARCB1/INI1 in chromosome band 22q11.2 predispose patients to rhabdoid tumor and schwannomatosis. Previous estimates suggested that 15-20% of rhabdoid tumors were caused by an underlying germline abnormality of SMARCB1. However, these studies were limited by case selection and an inability to detect intragenic deletions and duplications.

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          Author and article information

          Journal
          Pediatr Blood Cancer
          Pediatric blood & cancer
          Wiley
          1545-5017
          1545-5009
          Jan 2011
          : 56
          : 1
          Affiliations
          [1 ] Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
          Article
          NIHMS230585
          10.1002/pbc.22831
          3086793
          21108436
          dbb3bff5-d505-4c36-beb9-90b6b5436ebe
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