Article
An analysis of phenotypic variation in the familial cancer syndrome von Hippel-Lindau disease: evidence for modifier effects.
American journal of human genetics - 1 Oct 1998
Webster A R, Richards F M, MacRonald F E, Moore A T, Maher E R
Abstract excerpt
von Hippel-Lindau disease (VHL) is a dominantly inherited familial cancer syndrome predisposing to ocular and CNS hemangioblastomas, renal-cell carcinoma (RCC), and pheochromocytoma. Both interfamilial and intrafamilial variability in expression is well recognized. Interfamilial differences in ph...
Topics
- Adolescent
- Adult
- Age Factors
- Age of Onset
- Aged
- Cerebellar Neoplasms
- Child
- Consanguinity
- Cytochrome P-450 CYP2D6
- Eye Abnormalities
- Eye Neoplasms
- Female
- Genetic Variation
- Hemangioblastoma
- Hemangioma
- Heterozygote
- Humans
- Kidney