Article
Somatic mosaicism: a common cause of classic disease in tumor-prone syndromes? Lessons from type 2 neurofibromatosis.
American journal of human genetics - 1 Sept 1998
Evans D G, Wallace A J, Wu C L, Trueman L, Ramsden R T, Strachan T
Abstract excerpt
Blood samples from 125 families with classic type 2 neurofibromatosis with bilateral vestibular schwannomas were analyzed for mutations in the NF2 gene. Causative mutations were identified in 52 families. In five families, the first affected individual in the family (the index case) was a mosaic...
Topics
- Adult
- Age of Onset
- Child
- DNA
- Exons
- Female
- Genes, Neurofibromatosis 2
- Humans
- Male
- Middle Aged
- Models, Genetic
- Mosaicism
- Mutation