A novel homozygous mutation affecting integrin alpha6 in a case of junctional epidermolysis bullosa with pyloric atresia detected in utero by ultrasound examination

J Invest Dermatol. 1998 Nov;111(5):914-6. doi: 10.1046/j.1523-1747.1998.00373.x.
No abstract available

Publication types

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

MeSH terms

  • Antigens, CD / genetics*
  • Epidermolysis Bullosa, Junctional / diagnostic imaging
  • Epidermolysis Bullosa, Junctional / genetics*
  • Female
  • Homozygote
  • Humans
  • Integrin alpha6
  • Male
  • Mutation
  • Pregnancy
  • Pylorus / abnormalities*
  • Pylorus / diagnostic imaging
  • Ultrasonography, Prenatal

Substances

  • Antigens, CD
  • Integrin alpha6