A novel missense mutation in the TRPS1 gene underlies trichorhinophalangeal syndrome type III

Br J Dermatol. 2008 Aug;159(2):476-8. doi: 10.1111/j.1365-2133.2008.08658.x. Epub 2008 Jun 9.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Base Sequence
  • DNA-Binding Proteins / genetics*
  • Female
  • Humans
  • Langer-Giedion Syndrome / genetics*
  • Male
  • Mutation, Missense*
  • Pedigree
  • Phenotype
  • Repressor Proteins
  • Transcription Factors / genetics*

Substances

  • DNA-Binding Proteins
  • Repressor Proteins
  • TRPS1 protein, human
  • Transcription Factors