Article
Waardenburg syndrome type II: phenotypic findings and diagnostic criteria.
American journal of medical genetics - 2 Jan 1995
Liu X Z, Newton V E, Read A P
Abstract excerpt
The Waardenburg syndrome (WS) consists of at least two distinct autosomal dominant hereditary disorders. WS Type I has been mapped to the distal part of chromosome 2q and the gene identified as PAX3. Other gene(s) are responsible for WS Type II. Mapping WS Type II requires accurate diagnosis within affected families. To establish diagnostic criteria for WS Type II, 81 individuals from 21 families with Type II WS...
Topics
- Adolescent
- Adult
- Aged
- Child
- Child, Preschool
- Deafness
- Female
- Genetic Markers
- Humans
- Iridocyclitis
- Male
- Middle Aged
- Phenotype