A new nonsense mutation in the POGLUT1 gene in two sisters with Dowling-Degos disease

J Eur Acad Dermatol Venereol. 2018 Dec;32(12):e440-e442. doi: 10.1111/jdv.14958. Epub 2018 Jul 31.
No abstract available

Publication types

  • Letter

MeSH terms

  • Codon, Nonsense
  • Female
  • Glucosyltransferases / genetics*
  • Humans
  • Hyperpigmentation / diagnosis
  • Hyperpigmentation / genetics*
  • Hyperpigmentation / pathology
  • Middle Aged
  • Siblings
  • Skin Diseases, Genetic / diagnosis
  • Skin Diseases, Genetic / genetics*
  • Skin Diseases, Genetic / pathology
  • Skin Diseases, Papulosquamous / diagnosis
  • Skin Diseases, Papulosquamous / genetics*
  • Skin Diseases, Papulosquamous / pathology

Substances

  • Codon, Nonsense
  • Glucosyltransferases
  • POGLUT1 protein, human

Supplementary concepts

  • Dowling-Degos Disease