A 163-bp deletion in the neurofibromatosis 2 (NF2) gene associated with variant phenotypes [corrected].

doi:10.1007/BF00208973

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Article

A 163-bp deletion in the neurofibromatosis 2 (NF2) gene associated with variant phenotypes [corrected].

Human genetics - 1 Apr 1995

Kluwe L, Pulst S M, Köppen J, Mautner V F

Abstract excerpt

We have analyzed cDNA from a 46-year-old atypical neurofibromatosis type 2 (NF2) patient who had lumbar tumors, cataract and schwannomas of peripheral nerves but no vestibular schwannomas, and have identified a 163-bp deletion in the NF2 transcript. The deletion is predicted to remove 54, alter 1...

Topics

Adult
Cataract
Child, Preschool
DNA Mutational Analysis
DNA, Neoplasm
Female
Gene Deletion
Genes, Neurofibromatosis 2
Genotype
Humans
Male
Middle Aged
Neurilemmoma
Neurofibromatosis 2
Pedigree
Phenotype
Spinal Cord Neoplasms

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