Article
Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients.
Journal of medical genetics - 1 Oct 2015
Hexter Adam, Jones Adrian, Joe Harry, Heap Laura, Smith Miriam J, Wallace Andrew J, Halliday Dorothy, Parry Allyson, Taylor Amy, Raymond Lucy, Shaw Adam, Afridi Shazia, Obholzer Rupert, Axon Patrick, King Andrew T, Friedman Jan M, Evans D Gareth R
Abstract excerpt
BACKGROUND: Neurofibromatosis 2 (NF2) is an autosomal-dominant tumour predisposition syndrome characterised by bilateral vestibular schwannomas, considerable morbidity and reduced life expectancy. Although genotype-phenotype correlations are well established in NF2, little is known about effects of mutation type or location within the gene on mortality. Improvements in NF2 diagnosis and management have occurred,...
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