Article
Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature.
American journal of medical genetics - 28 Aug 1995
Baldwin C T, Hoth C F, Macina R A, Milunsky A
Abstract excerpt
Waardenburg syndrome (WS) is an autosomal-dominant disorder characterized by sensorineural hearing loss, dystopia canthorum, and pigmentary disturbances, and it represents the most common form of inherited deafness in infants. WS type I is characterized by the presence of dystopia canthorum, whil...
Topics
- Amino Acid Sequence
- Base Sequence
- DNA-Binding Proteins
- Electrophoresis
- Humans
- Molecular Sequence Data
- Mutation
- Neural Tube Defects
- PAX3 Transcription Factor
- Paired Box Transcription Factors
- Transcription Factors
- Waardenburg Syndrome