Lethal form of keratitis-ichthyosis-deafness syndrome caused by the GJB2 mutation p.Ser17Phe

Acta Derm Venereol. 2014 Sep;94(5):591-2. doi: 10.2340/00015555-1818.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Substitution / genetics*
  • Connexin 26
  • Connexins / genetics*
  • Deafness / genetics*
  • Exons
  • Fatal Outcome
  • Humans
  • Ichthyosis / genetics*
  • Infant
  • Keratitis / genetics*
  • Male
  • Mutation*

Substances

  • Connexins
  • GJB2 protein, human
  • Connexin 26

Supplementary concepts

  • Keratitis, Ichthyosis, and Deafness (KID) Syndrome