Homozygous dominant missense mutation in keratin 17 leads to alopecia in addition to severe pachyonychia congenita

J Invest Dermatol. 2012 Jul;132(7):1921-4. doi: 10.1038/jid.2011.484. Epub 2012 Feb 16.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Alopecia / genetics*
  • Child
  • Female
  • Homozygote
  • Humans
  • Infant
  • Keratin-17 / genetics*
  • Male
  • Mutation, Missense*
  • Pachyonychia Congenita / genetics*

Substances

  • Keratin-17