Article
Waardenburg syndrome (WS): the analysis of a single family with a WS1 mutation showing linkage to RFLP markers on human chromosome 2q.
American journal of human genetics - 1 Jan 1991
Asher J H, Morell R, Friedman T B
Abstract excerpt
Waardenburg syndrome type I (WS1; MIM 19350) is caused by a pleiotropic, autosomal dominant mutation with variable penetrance and expressivity. Of individuals with this mutation, 20%-25% are hearing impaired. A multilocus linkage analysis of RFLP data from a single WS1 family with 11 affected individuals indicates that the WS1 mutation in this family is linked to the following four marker loci located on the long...
Topics
- Chromosomes, Human, Pair 2
- Female
- Genetic Linkage
- Genetic Markers
- Humans
- Male
- Mutation
- Pedigree
- Phenotype
- Polymorphism, Restriction Fragment Length
- Waardenburg Syndrome