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Article

Phenotypic variability in monozygotic twins with neurofibromatosis 2.

American journal of medical genetics - 6 Sept 1996

Baser M E, Ragge N K, Riccardi V M, Janus T, Gantz B, Pulst S M

Abstract excerpt

Mutations in the neurofibromatosis 2 (NF2) tumor suppressor gene on chromosome 22q12 cause a clinically variable autosomal dominant syndrome characterized by bilateral vestibular schwannomas (VSs), other nervous system tumors, and early onset lenticular cataracts. We studied three pairs of monozygotic (MZ) twins with NF2, all with bilateral VSs, to separate genetic from nongenetic causes of clinical variability....

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Identifiers

PMID: 8870923
DOI: 10.1002/(SICI)1096-8628(19960906)64:4<563::AID-AJMG7>3.0.CO;2-Q

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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