Article
Mutations in the human TWIST gene.
Human mutation - 1 Jan 2000
Gripp K W, Zackai E H, Stolle C A
Abstract excerpt
Saethre-Chotzen syndrome is a relatively common craniosynostosis disorder with autosomal dominant inheritance. Mutations in the TWIST gene have been identified in patients with Saethre-Chotzen syndrome. The TWIST gene product is a transcription factor with DNA binding and helix-loop-helix domains. Numerous missense and nonsense mutations cluster in the functional domains, without any apparent mutational hot spot....
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