A gain-of-function mutation in TRPV3 causes focal palmoplantar keratoderma in a Chinese family

J Invest Dermatol. 2015 Mar;135(3):907-909. doi: 10.1038/jid.2014.429. Epub 2014 Oct 6.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Asian People / genetics*
  • Family
  • Humans
  • Keratoderma, Palmoplantar, Diffuse / genetics*
  • Keratoderma, Palmoplantar, Diffuse / pathology
  • Male
  • Mutation / genetics*
  • Papilloma / genetics*
  • Papilloma / pathology
  • Phenotype
  • Skin / pathology
  • TRPV Cation Channels / genetics*

Substances

  • TRPV Cation Channels
  • TRPV3 protein, human

Supplementary concepts

  • Hyperkeratosis of the palms and soles and esophageal papillomas