Article
Cranial meningiomas in 411 neurofibromatosis type 2 (NF2) patients with proven gene mutations: clear positional effect of mutations, but absence of female severity effect on age at onset.
Journal of medical genetics - 1 Apr 2011
Smith Miriam J, Higgs Jenny E, Bowers Naomi L, Halliday Dorothy, Paterson Joan, Gillespie James, Huson Susan M, Freeman Simon R, Lloyd Simon, Rutherford Scott A, King Andrew T, Wallace Andrew J, Ramsden Richard T, Evans D Gareth R
Abstract excerpt
BACKGROUND: Meningiomas have been reported to occur in approximately 50% of neurofibromatosis type 2 (NF2) patients. The NF2 gene is commonly biallelically inactivated in both schwannomas and meningiomas. The spectrum of NF2 mutations consists mainly of truncating (nonsense and frameshift) mutations. A smaller number of patients have missense mutations, which are associated with a milder disease phenotype....
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