Article
[Von Hippel-Lindau syndrome - two sides of the same coin].
Vnitrni lekarstvi - 1 Jan 2000
Páleníková Patrícia, Adamcová Monika, Šturdík Igor, Ftáčniková Beáta, Copáková Lucia, Payer Juraj
Abstract excerpt
Von Hippel-Lindau syndrome (VHL) is a rare genetic disease. Its incidence is 1 : 36,000, there is the familial occurrence in 80 % of cases , the remaining cases are de novo mutations. The disease is caused by the highly penetrant mutations in the VHL gene (3p25.3) and is characterized by the occurrence of benign and malignant neoplasms. The most common VHL tumors are the tumors of the retina, brain and spinal...
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