Insights from a desmoplakin mutation identified in lethal acantholytic epidermolysis bullosa

J Invest Dermatol. 2010 Nov;130(11):2680-3. doi: 10.1038/jid.2010.189. Epub 2010 Jul 8.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Desmoplakins / genetics*
  • Epidermolysis Bullosa / genetics*
  • Epidermolysis Bullosa / pathology*
  • Fatal Outcome
  • Female
  • Gene Deletion*
  • Humans
  • Infant, Newborn

Substances

  • DSP protein, human
  • Desmoplakins