A heterozygous mutation in GJA1 gene in Chinese family with serious erythrokeratodermia variabilis et progressive

Chin Med J (Engl). 2019 Jan 5;132(1):86-88. doi: 10.1097/CM9.0000000000000011.
No abstract available

MeSH terms

  • Adult
  • Connexin 43 / genetics*
  • Erythrokeratodermia Variabilis / genetics*
  • Female
  • Heterozygote
  • Humans
  • Male
  • Mutation / genetics*
  • Mutation, Missense / genetics
  • Pedigree

Substances

  • Connexin 43
  • GJA1 protein, human