GJB6 mutation A88V for hidrotic ectodermal dysplasia in a Chinese family

Int J Dermatol. 2019 Dec;58(12):1462-1465. doi: 10.1111/ijd.14341. Epub 2019 Jan 8.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Substitution
  • Asian People / genetics
  • Child, Preschool
  • Connexin 30 / genetics*
  • DNA Mutational Analysis
  • Ectodermal Dysplasia / diagnosis
  • Ectodermal Dysplasia / genetics*
  • Female
  • Humans
  • Male
  • Mutation
  • Pedigree

Substances

  • Connexin 30
  • GJB6 protein, human