Recurrent mutation in keratin 17 in a large family with pachyonychia congenita type 2

Arch Dermatol Res. 2008 Jun;300(5):211-4. doi: 10.1007/s00403-008-0840-7. Epub 2008 Mar 18.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Age Factors
  • Diagnosis, Differential
  • Epidermal Cyst / genetics
  • Female
  • Humans
  • Keratin-17 / genetics*
  • Keratoderma, Palmoplantar / diagnosis
  • Keratoderma, Palmoplantar / genetics
  • Male
  • Middle Aged
  • Mutation*
  • Nails, Malformed / genetics
  • Pachyonychia Congenita / diagnosis
  • Pachyonychia Congenita / genetics*
  • Pachyonychia Congenita / pathology
  • Pachyonychia Congenita / physiopathology
  • Pedigree

Substances

  • Keratin-17