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....
Topics
- Adolescent
- Base Sequence
- Child
- Female
- Genes, Neurofibromatosis 2
- Humans
- Male
- Membrane Proteins
- Molecular Probes
- Molecular Sequence Data
- Neurofibromatosis 2
- Neurofibromin 2