Article
Further genotype--phenotype correlations in neurofibromatosis 2.
Clinical genetics - 1 Feb 2010
Selvanathan S K, Shenton A, Ferner R, Wallace A J, Huson S M, Ramsden R T, Evans D G
Abstract excerpt
Neurofibromatosis 2 (NF2) is caused by mutations in the NF2 gene predisposing carriers to develop nervous system tumours. Different NF2 mutations result in either loss/reduced protein function or gain of protein function (abnormally behaving mutant allele i.e. truncated protein potentially causing dominant negative effect). We present a comparison between the clinical presentations of patients with mutations that...
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