Article
Non-expression of von Hippel-Lindau phenotype in an obligate gene carrier.
Clinical genetics - 1 Feb 1994
Davies D R, Norman A M, Whitehouse R W, Evans D G
Abstract excerpt
Von Hippel-Lindau disease is generally considered to be a condition with very high penetrance, and individuals who live beyond the age of 60 years without showing any features of the disease, despite undoubtedly carrying the gene defect, have not previously been clearly described. The case is presented of a 65-year-old woman, who had four siblings affected with von Hippel-Lindau disease and had six children,...
Topics
- Aged
- Female
- Genetic Carrier Screening
- Humans
- Male
- Pedigree
- Phenotype
- von Hippel-Lindau Disease