Mutations in GJB6 causing phenotype resembling pachyonychia congenita

Br J Dermatol. 2015;172(5):1447-9. doi: 10.1111/bjd.13520. Epub 2015 Mar 13.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Child
  • Connexin 30
  • Connexins / genetics*
  • Diagnosis, Differential
  • Ectodermal Dysplasia / diagnosis
  • Ectodermal Dysplasia / genetics*
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mutation, Missense / genetics*
  • Pachyonychia Congenita / diagnosis
  • Pachyonychia Congenita / genetics
  • Phenotype
  • Young Adult

Substances

  • Connexin 30
  • Connexins
  • GJB6 protein, human