Article
Genotype-phenotype correlation in von Hippel-Lindau syndrome.
Human molecular genetics - 1 Apr 2001
Friedrich C A
Abstract excerpt
The von Hippel-Lindau (VHL) syndrome (OMIM 193300) is an autosomal dominant disorder caused by deletions or mutations in a tumor suppressor gene on human chromosome 3p25. It is characterized clinically by vascular tumors including benign hemangioblastomas of the cerebellum, spine, brain stem and retina. Clear-cell renal cell carcinoma is a frequent cause of death, occurring in up to 70% of patients with VHL....
Topics
- Adenocarcinoma, Clear Cell
- Alleles
- Carcinoma, Renal Cell
- Chromosomes, Human, Pair 3
- Exons
- Family Health
- Female
- Gene Deletion
- Genotype
- Humans
- Kidney Neoplasms
- Ligases