Identification of a frameshift mutation in the gene TWIST in a family affected with Robinow-Sorauf syndrome

J Med Genet. 1999 Aug;36(8):650-2.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acrocephalosyndactylia / diagnostic imaging
  • Acrocephalosyndactylia / genetics*
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 7
  • DNA Mutational Analysis
  • Female
  • Frameshift Mutation*
  • Humans
  • Infant
  • Male
  • Nuclear Proteins / genetics*
  • Pedigree
  • Polymorphism, Restriction Fragment Length
  • Radiography
  • Sequence Analysis
  • Transcription Factors*
  • Twist-Related Protein 1

Substances

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