A case of pachyonychia congenita with a hotspot variant at Arg127 in KRT16: Disease severity assessment using AlphaMissense technology

J Dermatol. 2024 Aug;51(8):1134-1136. doi: 10.1111/1346-8138.17367. Epub 2024 Jul 4.
No abstract available

Keywords: genotype–phenotype correlation; missense; nail; palmoplantar keratoderma; substitution.

Publication types

  • Letter
  • Case Reports

MeSH terms

  • Arginine / genetics
  • Female
  • Humans
  • Male
  • Mutation, Missense
  • Pachyonychia Congenita* / diagnosis
  • Pachyonychia Congenita* / genetics
  • Severity of Illness Index*

Substances

  • Arginine