Article
Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations.
Journal of medical genetics - 1 Apr 1996
Maher E R, Webster A R, Richards F M, Green J S, Crossey P A, Payne S J, Moore A T
Abstract excerpt
Von Hippel-Lindau disease is an autosomal dominantly inherited familial cancer syndrome predisposing to retinal and central nervous system haemangioblastomas, renal cell carcinoma, and phaeochromocytoma. VHL disease shows variable expression and interfamilial differences in predisposition to phae...
Topics
- Adolescent
- Adult
- Age Factors
- Blotting, Southern
- Child
- Child, Preschool
- Genes, Tumor Suppressor
- Genotype
- Germ-Line Mutation
- Humans
- Ligases
- Phenotype
- Polymorphism, Single-Stranded Conformational
- Proteins
- Risk Factors
- Tumor Suppressor Proteins
- Ubiquitin-Protein Ligases
- Von Hippel-Lindau Tumor Suppressor Protein