A novel missense mutation in the TRPS1 gene in a case of trichorhinophalangeal syndrome type I (TRPS1) with fish-like malodour

J Eur Acad Dermatol Venereol. 2010 Mar;24(3):358-9. doi: 10.1111/j.1468-3083.2009.03406.x. Epub 2009 Aug 20.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple
  • Bone Diseases, Developmental / genetics*
  • Child
  • Craniofacial Abnormalities / genetics*
  • DNA Mutational Analysis
  • DNA*
  • DNA-Binding Proteins / genetics*
  • Female
  • Fingers / abnormalities*
  • Hair / abnormalities*
  • Humans
  • Mutation, Missense*
  • Repressor Proteins
  • Syndrome
  • Transcription Factors / genetics*

Substances

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