Article
[Neurofibromatosis--an inborn genetic disorder with susceptibility to neoplasia].
Medycyna wieku rozwojowego - 1 Jan 2000
Karwacki Marek W, Woźniak Wojciech
Abstract excerpt
Among different subtypes of neurofibromatosis (Nf), type 1 (Nf-1) predominates in frequency (approximately 97% of Nfs' patients) with an incidence of approximately 1 in 3500 live births. Nf-2, comprises 2% of the Nf population and is a very rare disease (1:40,000). Both are autosomal dominant disorders with 100% penetration, variable expression and 50% rate of new (de novo) mutations. The protein products of...
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