G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome

Am J Med Genet A. 2005 Jul 30;136(3):282-4. doi: 10.1002/ajmg.a.30822.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Adult
  • Base Sequence
  • Connexin 26
  • Connexins / genetics*
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Hand Dermatoses / pathology*
  • Hearing Loss, Sensorineural / pathology*
  • Humans
  • Keratosis / pathology
  • Male
  • Mutation, Missense*
  • Syndrome

Substances

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