Mal de Meleda with homozygous mutation p.G86R in SLURP-1

Int J Dermatol. 2020 Jun;59(6):751-754. doi: 10.1111/ijd.14807. Epub 2020 Feb 12.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Antigens, Ly / genetics*
  • DNA Mutational Analysis
  • Foot
  • Hand
  • Homozygote
  • Humans
  • Keratoderma, Palmoplantar / diagnosis*
  • Keratoderma, Palmoplantar / genetics
  • Male
  • Mutation, Missense
  • Severity of Illness Index
  • Urokinase-Type Plasminogen Activator / genetics*

Substances

  • Antigens, Ly
  • SLURP1 protein, human
  • Urokinase-Type Plasminogen Activator