Article
A genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counselling.
Journal of medical genetics - 1 Dec 1992
Evans D G, Huson S M, Donnai D, Neary W, Blair V, Newton V, Strachan T, Harris R
Abstract excerpt
The major defining features, age at onset of symptoms, and survival in 150 patients with type 2 neurofibromatosis (NF2) have been studied. The mean age at onset was 21.57 years (n = 110) and no cases presented after 55 years of age. Patients presented with symptoms attributable to vestibular schwannomas (acoustic neuroma), cranial meningiomas, and spinal tumours. In 97 cases studied personally by the authors,...
Topics
- Adolescent
- Adult
- Age Factors
- Aged
- Cataract
- Genes, Neurofibromatosis 2
- Genetic Counseling
- Genetic Testing
- Genetic Variation
- Humans
- Life Tables