Keratitis-ichthyosis-deafness syndrome caused by GJB2 maternal mosaicism

J Invest Dermatol. 2009 Mar;129(3):776-9. doi: 10.1038/jid.2008.312. Epub 2008 Oct 9.
No abstract available

Publication types

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

MeSH terms

  • Base Sequence
  • Child, Preschool
  • Connexin 26
  • Connexins / genetics*
  • DNA Mutational Analysis
  • Deafness / genetics*
  • Facies
  • Female
  • Humans
  • Ichthyosis / genetics*
  • Keratitis / genetics*
  • Male
  • Mosaicism*
  • Mutation, Missense
  • Syndrome

Substances

  • Connexins
  • GJB2 protein, human
  • Connexin 26