Founder Variants in KRT5 and POGLUT1 Are Implicated in Dowling-Degos Disease

J Invest Dermatol. 2024 Jan;144(1):181-184. doi: 10.1016/j.jid.2023.04.036. Epub 2023 Jul 17.
No abstract available

Publication types

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

MeSH terms

  • Glucosyltransferases
  • Humans
  • Hyperpigmentation* / genetics
  • Keratin-5 / genetics
  • Skin Diseases, Genetic* / genetics
  • Skin Diseases, Papulosquamous* / diagnosis
  • Skin Diseases, Papulosquamous* / genetics

Substances

  • KRT5 protein, human
  • Keratin-5
  • POGLUT1 protein, human
  • Glucosyltransferases

Supplementary concepts

  • Dowling-Degos Disease