Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis

J Invest Dermatol. 2020 Jun;140(6):1285-1288. doi: 10.1016/j.jid.2019.10.015. Epub 2019 Nov 29.
No abstract available

Publication types

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

MeSH terms

  • Child, Preschool
  • Codon, Nonsense
  • Consanguinity
  • Desmocollins / genetics*
  • Desmosomes / pathology
  • Desmosomes / ultrastructure
  • Egypt
  • Homozygote
  • Humans
  • Hypotrichosis / diagnosis
  • Hypotrichosis / genetics*
  • Hypotrichosis / pathology
  • Male
  • Microscopy, Electron, Transmission
  • Skin / pathology
  • Skin Diseases, Genetic / diagnosis
  • Skin Diseases, Genetic / genetics*
  • Skin Diseases, Genetic / pathology

Substances

  • Codon, Nonsense
  • DSC3 protein, human
  • Desmocollins