A novel mutation of keratin 17 gene in a pedigree with pachyonychia congenita type 2

Int J Dermatol. 2013 Jan;52(1):117-9. doi: 10.1111/j.1365-4632.2010.04667.x.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Humans
  • Keratin-17 / genetics*
  • Male
  • Mutation, Missense*
  • Nails, Malformed / genetics
  • Pachyonychia Congenita / diagnosis
  • Pachyonychia Congenita / genetics*
  • Pedigree
  • Polymerase Chain Reaction
  • Sequence Analysis, DNA

Substances

  • Keratin-17