Late-onset skin fragility in childhood: a case of junctional epidermolysis bullosa of late onset caused by a missense mutation in COL17A1

Br J Dermatol. 2013 Sep;169(3):714-5. doi: 10.1111/bjd.12353.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Autoantigens / genetics*
  • Blister / genetics
  • Collagen Type XVII
  • Epidermolysis Bullosa, Junctional / genetics*
  • Homozygote
  • Humans
  • Male
  • Mutation, Missense / genetics*
  • Non-Fibrillar Collagens / genetics*

Substances

  • Autoantigens
  • Non-Fibrillar Collagens