ITGB4-associated junctional epidermolysis bullosa without pylori atresia but profound genito-urinary involvement

Acta Derm Venereol. 2015 Jan;95(1):112-3. doi: 10.2340/00015555-1888.
No abstract available

Publication types

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

MeSH terms

  • DNA Mutational Analysis
  • Epidermolysis Bullosa, Junctional / complications
  • Epidermolysis Bullosa, Junctional / diagnosis
  • Epidermolysis Bullosa, Junctional / genetics*
  • Genetic Predisposition to Disease
  • Germ-Line Mutation*
  • Humans
  • Integrin beta4 / genetics*
  • Male
  • Male Urogenital Diseases / diagnosis
  • Male Urogenital Diseases / genetics*
  • Microscopy, Electron, Transmission
  • Phenotype
  • Young Adult

Substances

  • ITGB4 protein, human
  • Integrin beta4