Complete maternal isodisomy causing reduction to homozygosity for a novel LAMB3 mutation in Herlitz junctional epidermolysis bullosa

J Dermatol Sci. 2008 Jul;51(1):58-61. doi: 10.1016/j.jdermsci.2008.02.006. Epub 2008 Apr 1.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Cell Adhesion Molecules / genetics*
  • Epidermolysis Bullosa, Junctional / genetics*
  • Female
  • Homozygote
  • Humans
  • Infant
  • Kalinin
  • Male
  • Mutation, Missense
  • Uniparental Disomy*

Substances

  • Cell Adhesion Molecules