Article
Waardenburg syndrome type 3 (Klein-Waardenburg syndrome) segregating with a heterozygous deletion in the paired box domain of PAX3: a simple variant or a true syndrome?
Clinical genetics - 1 Oct 2001
Tekin M, Bodurtha J N, Nance W E, Pandya A
Abstract excerpt
Klein-Waardenburg syndrome or Waardenburg syndrome type 3 (WS-III; MIM 148820) is characterized by the presence of musculoskeletal abnormalities in association with clinical features of Waardenburg syndrome type 1 (WS-I). Since the description of the first patient in 1947 (D. Klein, Arch Klaus Stift Vererb Forsch 1947: 22: 336-342), a few cases have been reported. Only occasional families have demonstrated...
Topics
- Chromosome Segregation
- DNA Mutational Analysis
- DNA-Binding Proteins
- Exons
- Female
- Genes, Dominant
- Genetic Variation
- Heterozygote
- Humans
- Infant
- Infant, Newborn
- Male
- PAX3 Transcription Factor
- Paired Box Transcription Factors