A novel GJB2 (connexin 26) mutation, F142L, in a patient with unusual mucocutaneous findings and deafness

J Invest Dermatol. 2003 Nov;121(5):1221-3. doi: 10.1046/j.1523-1747.2003.12550_4.x.
No abstract available

Publication types

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

MeSH terms

  • Child, Preschool
  • Connexin 26
  • Connexins / chemistry
  • Connexins / genetics*
  • Female
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Mutation, Missense*
  • Skin Diseases / genetics*

Substances

  • Connexins
  • GJB2 protein, human
  • Connexin 26