Novel compound heterozygous ITGB4 mutations underlie lethal junctional epidermolysis bullosa with pyloric atresia and aplasia cutis congenita

J Dermatol. 2022 May;49(5):e154-e156. doi: 10.1111/1346-8138.16290. Epub 2022 Jan 11.
No abstract available

Publication types

  • Letter

MeSH terms

  • Ectodermal Dysplasia* / diagnosis
  • Ectodermal Dysplasia* / genetics
  • Epidermolysis Bullosa* / diagnosis
  • Epidermolysis Bullosa* / genetics
  • Epidermolysis Bullosa, Junctional* / diagnosis
  • Epidermolysis Bullosa, Junctional* / genetics
  • Humans
  • Integrin beta4 / genetics
  • Mutation

Substances

  • ITGB4 protein, human
  • Integrin beta4

Supplementary concepts

  • Epidermolysis bullosa with pyloric atresia