Retrospective diagnosis of fatal BP180-deficient non-Herlitz junctional epidermolysis bullosa suggested by immunofluorescence (IF) antigen-mapping of parental carriers bearing enamel defects

J Invest Dermatol. 2007 Jul;127(7):1772-5. doi: 10.1038/sj.jid.5700766. Epub 2007 Mar 8.
No abstract available

Publication types

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

MeSH terms

  • Autoantigens / genetics*
  • Chromosome Mapping
  • Dental Enamel Hypoplasia / genetics*
  • Epidermolysis Bullosa, Junctional / diagnosis*
  • Epidermolysis Bullosa, Junctional / genetics*
  • Epidermolysis Bullosa, Junctional / immunology
  • Female
  • Fluorescent Antibody Technique
  • Heterozygote*
  • Humans
  • Infant, Newborn
  • Male
  • Mutation / genetics
  • Non-Fibrillar Collagens / genetics*
  • Pedigree
  • Retrospective Studies

Substances

  • Autoantigens
  • Non-Fibrillar Collagens
  • collagen type XVII