Long-term follow-up of a spontaneously improving patient with junctional epidermolysis bullosa associated with ITGB4 c.3977-19T>A splicing mutation

Acta Derm Venereol. 2013 Jan;93(1):116-8. doi: 10.2340/00015555-1381.
No abstract available

Publication types

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

MeSH terms

  • Child
  • Cystitis / congenital
  • Ectodermal Dysplasia / genetics*
  • Female
  • Heterozygote
  • Humans
  • Integrin beta4 / genetics*
  • Mutation*
  • Nail Diseases / congenital
  • RNA Splicing / genetics*

Substances

  • ITGB4 protein, human
  • Integrin beta4

Supplementary concepts

  • Epidermolysis bullosa with pyloric atresia