Abstract
Type 2 neurofibromatosis (NF2) is a dominantly inherited disorder characterized by a predisposition to multiple tumours of the nervous system. The incidence in the Caucasian population is estimated between one in 35,000 and one in 40,000 of live births. The NF2 gene was isolated and shown to have mutations in NF2 patients. It is considered to belong to tumour suppressor gene family. Direct NF2 gene analysis enables verification of tentative clinical diagnosis and makes genetic counselling possible.
| Translated title of the contribution | Neurofibromatosis type 2 (NF2)--classical example of a rare familial cancer syndrome |
|---|---|
| Original language | Polish |
| Pages (from-to) | 47-54 |
| Number of pages | 8 |
| Journal | Medycyna wieku rozwojowego |
| Volume | 3 |
| Issue number | 1 |
| State | Published - Jan 1 1999 |
| Externally published | Yes |
ASJC Scopus subject areas
- Medicine(all)