Article
Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities.
American journal of human genetics - 1 Sept 1996
Parry D M, MacCollin M M, Kaiser-Kupfer M I, Pulaski K, Nicholson H S, Bolesta M, Eldridge R, Gusella J F
Abstract excerpt
Neurofibromatosis 2 (NF2) features bilateral vestibular schwannomas, other benign neural tumors, and cataracts. Patients in some families develop many tumors at an early age and have rapid clinical progression, whereas in other families, patients may not have symptoms until much later and vestibu...
Topics
- Adolescent
- Adult
- Age of Onset
- Cataract
- Genes, Neurofibromatosis 2
- Genotype
- Germ-Line Mutation
- Humans
- Male
- Meningioma
- Mutation
- Neurofibromatosis 2
- Phenotype
- Polymorphism, Single-Stranded Conformational
- Retinal Diseases