Article
Phenotypic discriminants in the Waardenburg syndrome.
Clinical genetics - 1 Apr 1992
Winship I, Beighton P
Abstract excerpt
The gene for Waardenburg syndrome (WS) has been assigned to the locus 2q37 and further molecular investigations of affected families are now urgently required to explore the question of possible genetic heterogeneity. Firm positive or negative diagnosis in family members is crucial for studies of this type, but great variation in phenotypic expression sometimes makes this a difficult matter. Ethnic variation in...
Topics
- Adolescent
- Adult
- Africa, Southern
- Aged
- Child
- Child, Preschool
- Female
- Humans
- Male
- Middle Aged
- Pedigree
- Phenotype
- Waardenburg Syndrome