Japanese case of Bothnian-type palmoplantar keratoderma with a novel missense mutation of p.Trp35Ser in extracellular loop A of aquaporin-5

J Dermatol. 2019 Mar;46(3):e104-e106. doi: 10.1111/1346-8138.14621. Epub 2018 Aug 25.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Aquaporin 5 / genetics*
  • DNA Mutational Analysis
  • Humans
  • Japan
  • Keratoderma, Palmoplantar, Diffuse / diagnosis
  • Keratoderma, Palmoplantar, Diffuse / genetics*
  • Keratoderma, Palmoplantar, Diffuse / pathology
  • Male
  • Mutation, Missense
  • Skin / pathology

Substances

  • AQP5 protein, human
  • Aquaporin 5

Supplementary concepts

  • Diffuse palmoplantar keratoderma, Bothnian type