De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome

Am J Med Genet A. 2003 Feb 15;117A(1):89-91. doi: 10.1002/ajmg.a.10851.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Adolescent
  • Amino Acid Sequence
  • Base Sequence
  • Connexin 26
  • Connexins / genetics*
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Deafness / pathology*
  • Family Health
  • Female
  • Humans
  • Ichthyosis / pathology*
  • Keratitis / pathology*
  • Molecular Sequence Data
  • Mutation
  • Pedigree
  • Sequence Homology, Amino Acid
  • Syndrome

Substances

  • Connexins
  • GJB2 protein, human
  • Connexin 26
  • DNA