The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness

Am J Med Genet A. 2005 Aug 30;137(2):225-7. doi: 10.1002/ajmg.a.30765.
No abstract available

Publication types

  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology
  • Audiometry
  • Connexin 26
  • Connexins / genetics*
  • Family Health
  • Female
  • Genotype
  • Hearing Loss / genetics*
  • Hearing Loss / pathology
  • Humans
  • Keratoderma, Palmoplantar / genetics*
  • Keratoderma, Palmoplantar / pathology
  • Male
  • Mutation, Missense*
  • Pedigree
  • Syndrome

Substances

  • Connexins
  • GJB2 protein, human
  • Connexin 26