Article
Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2.
Nature genetics - 1 Jan 1993
Tassabehji M, Read A P, Newton V E, Patton M, Gruss P, Harris R, Strachan T
Abstract excerpt
Waardenburg syndrome (WS) is a combination of deafness and pigmentary disturbances, normally inherited as an autosomal dominant trait. The pathology involves neural crest derivatives, but WS is heterogeneous clinically and genetically. Some type I WS families show linkage with markers on distal 2...
Topics
- Amino Acid Sequence
- Base Sequence
- DNA
- DNA-Binding Proteins
- Female
- Humans
- Male
- Molecular Sequence Data
- Mutation
- PAX3 Transcription Factor
- Paired Box Transcription Factors
- Pedigree
- Polymerase Chain Reaction
- Transcription Factors
- Waardenburg Syndrome