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Article

Somatic Instability of the NF2 Gene in Schwannomatosis

1 Sept 2003

Abstract excerpt

CONTEXT: Schwannomatosis is a newly described form of neurofibromatosis of unclear pathogenesis. PATIENT AND METHODS: We studied the NF2 locus on chromosome 22 in 7 tumor specimens resected from a 36-year-old man with schwannomatosis of the right ulnar nerve. RESULTS: Unrelated truncating NF2 gene mutations were detected in 4 tumor specimens. None of the NF2 mutations were present in the blood specimen. Loss of...

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PMID: 12975302
DOI: 10.1001/archneur.60.9.1317

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