Nerwiakowłókniakowatość typu 2 (NF2)--klasyczny przykład rodzinnego zespołu nowotworowego.

Translated title of the contribution: Neurofibromatosis type 2 (NF2)--classical example of a rare familial cancer syndrome

Research output: Contribution to journalReview article

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.

Original languagePolish
Pages (from-to)47-54
Number of pages8
JournalMedycyna wieku rozwojowego
Volume3
Issue number1
StatePublished - 1999
Externally publishedYes

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Neurofibromatosis 2
Neurofibromatosis 2 Genes
Neoplasms
Nervous System Neoplasms
Genetic Counseling
Live Birth
Tumor Suppressor Genes
Mutation
Incidence
Population

Cite this

Nerwiakowłókniakowatość typu 2 (NF2)--klasyczny przykład rodzinnego zespołu nowotworowego. / Wiszniewski, Wojciech.

In: Medycyna wieku rozwojowego, Vol. 3, No. 1, 1999, p. 47-54.

Research output: Contribution to journalReview article

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