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Article

A point mutation associated with a severe phenotype of neurofibromatosis 2.

Annals of neurology - 1 Sept 1996

MacCollin M, Braverman N, Viskochil D, Ruttledge M, Davis K, Ojemann R, Gusella J, Parry D M

Abstract excerpt

Neurofibromatosis 2 (NF2) is an autosomal dominant disease characterized by bilateral vestibular schwannomas and other nonmalignant tumors of the brain, spinal cord, and peripheral nerves. Although the average age of onset of NF2 is 20 years, some individuals may become symptomatic in childhood. We studied 5 unrelated NF2 patients who became symptomatic before age 13. All 5 had multiple tumors in addition to...

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PMID: 8797533
DOI: 10.1002/ana.410400313

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A point mutation associated with a severe phenotype of neurofibromatosis 2.PMID 8797533Read ↗

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A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2.Semantic proximity Read ↗

Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas.Semantic proximity Read ↗

The diagnosis and management of neurofibromatosis 2 in childhood.Semantic proximity Read ↗

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Clinical manifestations of mutations in the neurofibromatosis type 2 gene in vestibular schwannomas (acoustic neuromas).Semantic proximity Read ↗

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