Desmoglein 4 Mutation Underlies Autosomal Recessive Keratosis Pilaris Atrophicans

Acta Derm Venereol. 2018 Aug 29;98(8):809-810. doi: 10.2340/00015555-2976.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • DNA Mutational Analysis
  • Darier Disease / diagnosis
  • Darier Disease / genetics*
  • Desmogleins / genetics*
  • Eyebrows / abnormalities*
  • Female
  • Genetic Predisposition to Disease
  • Heredity
  • Humans
  • Mutation*
  • Pedigree
  • Phenotype

Substances

  • DSG4 protein, human
  • Desmogleins

Supplementary concepts

  • Burnett Schwartz Berberian syndrome