Olmsted syndrome caused by a homozygous recessive mutation in TRPV3

J Invest Dermatol. 2014 Jun;134(6):1752-1754. doi: 10.1038/jid.2014.37. Epub 2014 Jan 24.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Base Sequence
  • Child, Preschool
  • DNA Mutational Analysis
  • Female
  • Genes, Dominant
  • Genes, Recessive*
  • Hair Follicle / metabolism
  • Homozygote*
  • Humans
  • Keratinocytes / cytology
  • Keratoderma, Palmoplantar / genetics*
  • Keratosis / genetics
  • Molecular Sequence Data
  • Mutation
  • Skin Diseases / genetics*
  • Syndrome
  • TRPV Cation Channels / genetics*

Substances

  • TRPV Cation Channels
  • TRPV3 protein, human