Article
Identification of NF2 germ-line mutations and comparison with neurofibromatosis 2 phenotypes.
Human genetics - 1 Nov 1996
Kluwe L, Bayer S, Baser M E, Hazim W, Haase W, Fünsterer C, Mautner V F
Abstract excerpt
Neurofibromatosis 2 (NF2) is an autosomal inherited disorder that predisposes carriers to nervous system tumors. To examine genotype-phenotype correlations in NF2, we performed mutation analyses and gadolinium-enhanced magnetic resonance imaging of the head and full spine in 59 unrelated NF2 patients. In patients with vestibular schwannomas (VSs) or identified NF2 mutations, the mild phenotype was defined as < 2...
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