Pyloric atresia with junctional epidermolysis bullosa (PA-JEB) syndrome: absence of detectable beta4 integrin and reduced expression of epidermal linear IgA dermatosis antigen

Int J Dermatol. 1999 Jun;38(6):467-70. doi: 10.1046/j.1365-4362.1999.00708.x.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Antigens, CD / metabolism*
  • Autoantigens / metabolism*
  • Collagen / metabolism
  • Digestive System Abnormalities / metabolism*
  • Digestive System Abnormalities / pathology
  • Epidermolysis Bullosa, Junctional / metabolism*
  • Epidermolysis Bullosa, Junctional / pathology
  • Female
  • Fluorescent Antibody Technique, Indirect
  • Humans
  • Immunoglobulin A / metabolism*
  • Infant, Newborn
  • Integrin beta4
  • Integrins / metabolism
  • Laminin / metabolism
  • Pylorus / abnormalities*
  • Pylorus / pathology
  • Skin / metabolism*
  • Skin / ultrastructure
  • Syndrome

Substances

  • Antigens, CD
  • Autoantigens
  • Immunoglobulin A
  • Integrin beta4
  • Integrins
  • Laminin
  • Collagen