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

Clin Genet. 2003 Jul;64(1):79-82. doi: 10.1034/j.1399-0004.2003.00098.x.
No abstract available

Publication types

  • Letter
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Acrocephalosyndactylia / genetics*
  • Acrocephalosyndactylia / 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

Substances

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