Mutations in POGLUT1 in Galli-Galli/Dowling-Degos disease

Br J Dermatol. 2017 Jan;176(1):270-274. doi: 10.1111/bjd.14914. Epub 2016 Sep 24.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Aged
  • Female
  • Glucosyltransferases / genetics*
  • Humans
  • Hyperpigmentation / diagnosis
  • Hyperpigmentation / genetics*
  • Male
  • Middle Aged
  • Mutation, Missense / genetics*
  • Pedigree
  • Skin Diseases, Genetic / diagnosis
  • Skin Diseases, Genetic / genetics*
  • Skin Diseases, Papulosquamous / diagnosis
  • Skin Diseases, Papulosquamous / genetics*

Substances

  • Glucosyltransferases
  • POGLUT1 protein, human

Supplementary concepts

  • Dowling-Degos Disease