G11R mutation in GJB6 gene causes hidrotic ectodermal dysplasia involving only hair and nails in a Chinese family

J Dermatol. 2010 Jun;37(6):559-61. doi: 10.1111/j.1346-8138.2009.00768.x.
No abstract available

Publication types

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

MeSH terms

  • Asian People
  • China
  • Connexin 30
  • Connexins / genetics*
  • Ectodermal Dysplasia / genetics*
  • Ectodermal Dysplasia / pathology
  • Female
  • Hair / pathology*
  • Humans
  • Male
  • Mutation, Missense
  • Nails / pathology*

Substances

  • Connexin 30
  • Connexins
  • GJB6 protein, human