Article
Two different PAX3 gene mutations causing Waardenburg syndrome type I.
Molecular and cellular probes - 1 Jun 1996
Wildhardt G, Winterpacht A, Hilbert K, Menger H, Zabel B
Abstract excerpt
Waardenburg syndrome (WS) is a form of autosomal dominant inherited deafness combined with specific congenital anomalies. WS types I and III are correlated with mutations in the PAX3 gene on chromosome 2q37. In this report we describe two mutations in the human PAX3 gene causing WS type I in two...
Topics
- Base Sequence
- Child
- Child, Preschool
- DNA-Binding Proteins
- Female
- Humans
- Male
- Molecular Sequence Data
- Mutation
- PAX3 Transcription Factor
- Paired Box Transcription Factors
- Transcription Factors
- Waardenburg Syndrome