Phenotypic variability in monozygotic twins with neurofibromatosis 2.

Abstract

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… (More)

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@article{Baer1996PhenotypicVI, title={Phenotypic variability in monozygotic twins with neurofibromatosis 2.}, author={M{\"u}r{\"u}vvet Başer and Nicola K. Ragge and Vincent Michael Riccardi and Tomasz Janus and Bruce Jay Gantz and Stefan-M. Pulst}, journal={American journal of medical genetics}, year={1996}, volume={64 4}, pages={563-7} }