Article
Phenotypic variation in Waardenburg syndrome: mutational heterogeneity, modifier genes or polygenic background?
Human molecular genetics - 1 Apr 1996
Pandya A, Xia X J, Landa B L, Arnos K S, Israel J, Lloyd J, James A L, Diehl S R, Blanton S H, Nance W E
Abstract excerpt
We have identified 11 mutational changes in the PAX3 gene in patients with type 1 Waardenburg syndrome (WS1) including three in the paired domain, six within or immediately adjacent to the homeodomain and two previously described polymorphic variants in exons 2 and 6. The affected members of one...
Topics
- Amino Acid Sequence
- Base Sequence
- DNA Mutational Analysis
- DNA Primers
- DNA-Binding Proteins
- Exons
- Genetic Heterogeneity
- Humans
- Molecular Sequence Data
- Mutation
- PAX3 Transcription Factor
- Paired Box Transcription Factors
- Phenotype
- Polymorphism, Single-Stranded Conformational