Article
Genotype-phenotype correlations in von Hippel-Lindau disease.
Journal of internal medicine - 1 Jun 1998
Neumann H P, Bender B U
Abstract excerpt
A total of 146 intragenic germline mutations of the von Hippel-Lindau (VHL) gene are known and this figure is still increasing. To date, information for mutation-specific genetic counselling is insufficient, since either the total number of carriers is very low or clinical information and investi...
Topics
- Genetic Counseling
- Genotype
- Humans
- Mutation
- Phenotype
- von Hippel-Lindau Disease
