Article
The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic cases.
Human molecular genetics - 1 Aug 1997
Rose C S, Patel P, Reardon W, Malcolm S, Winter R M
Abstract excerpt
The TWIST gene maps to 7p21 and mutations in the gene have been reported in the Saethre-Chotzen form of craniosynostosis. The position of the Saethre-Chotzen gene has previously been refined by FISH analysis of four patients carrying balanced translocations involving 7p21 which suggested that it...
Topics
- Acrocephalosyndactylia
- Chromosomes, Human, Pair 7
- DNA Mutational Analysis
- Humans
- In Situ Hybridization, Fluorescence
- Mutation
- Nuclear Proteins
- Restriction Mapping
- Transcription Factors
- Translocation, Genetic
- Twist-Related Protein 1