Article
Genotype-phenotype correlations in von Hippel-Lindau disease.
Human mutation - 1 Feb 2007
Ong Kai Ren, Woodward Emma R, Killick Pip, Lim Caron, Macdonald Fiona, Maher Eamonn R
Abstract excerpt
von Hippel-Lindau (VHL) disease is a dominantly inherited familial cancer syndrome resulting from mutations in the VHL tumor suppressor gene. VHL disease displays marked variation in expression and the presence of pheochromocytoma has been linked to missense VHL mutations. We analyzed genotype-phenotype correlations in 573 individuals with VHL disease. Routine clinical and radiological surveillance of VHL...
Topics
- Age Factors
- Carcinoma, Renal Cell
- Genotype
- Mutation, Missense
- Phenotype
- Pheochromocytoma
- Risk Factors
- Von Hippel-Lindau Tumor Suppressor Protein
- von Hippel-Lindau Disease