Exome sequencing identifies novel compound heterozygous mutations in GJB3 gene that cause erythrokeratodermia variabilis et progressiva

Australas J Dermatol. 2019 Feb;60(1):e87-e89. doi: 10.1111/ajd.12887. Epub 2018 Jul 10.
No abstract available

Publication types

  • Letter

MeSH terms

  • Connexins / genetics*
  • Erythrokeratodermia Variabilis / genetics*
  • Exome Sequencing
  • Female
  • Heterozygote
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Pedigree
  • Phenotype

Substances

  • Connexins
  • GJB3 protein, human