A novel mutation in the TWIST gene, implicated in Saethre-Chotzen syndrome, is found in the original case of Robinow-Sorauf syndrome.

• Authors: J Cai, B A Shoo, T Sorauf, E Wang Jabs
• Journal: Clinical genetics (Clin Genet) Vol. 64 Issue 1 Pg. 79-82 (Jul 2003) ISSN: 0009-9163 [Print] Denmark
• PMID: 12791045 (Publication Type: Letter, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Nuclear Proteins
• TWIST1 protein, human
• Transcription Factors
• Twist-Related Protein 1

Topics

• Acrocephalosyndactylia (genetics, physiopathology)
• Adolescent
• Adult
• Child
• Child, Preschool
• DNA Mutational Analysis
• Female
• Humans
• Infant
• Male
• Middle Aged
• Mutation
• Nuclear Proteins
• Transcription Factors (genetics)
• Twist-Related Protein 1