Novel mutation in GJB4 gene (connexin 30.3) in a family with erythrokeratodermia variabilis

Acta Derm Venereol. 2013 Mar 27;93(2):193-5. doi: 10.2340/00015555-1436.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Biopsy
  • Connexins / genetics*
  • DNA Mutational Analysis
  • Erythrokeratodermia Variabilis / genetics*
  • Erythrokeratodermia Variabilis / pathology
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Pedigree
  • Phenotype
  • Skin / pathology

Substances

  • Connexins
  • connexin 30.3