A novel missense mutation in exon 3 of the TRPS1 gene in a patient with a mild phenotype of tricho-rhino-phalangeal syndrome type 1

Eur J Dermatol. 2018 Apr 1;28(2):271-272. doi: 10.1684/ejd.2018.3233.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • DNA-Binding Proteins / genetics*
  • Exons / genetics
  • Female
  • Follow-Up Studies
  • Genetic Predisposition to Disease*
  • Humans
  • Japan
  • Langer-Giedion Syndrome / genetics*
  • Langer-Giedion Syndrome / physiopathology
  • Mutation, Missense / genetics*
  • Phenotype
  • Rare Diseases
  • Repressor Proteins
  • Severity of Illness Index
  • Transcription Factors / genetics*

Substances

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