Vörner type palmoplantar keratoderma: novel KRT9 mutation associated with knuckle pad-like lesions and recurrent mutation causing digital mutilation

Br J Dermatol. 2011 Jul;165(1):199-201. doi: 10.1111/j.1365-2133.2011.10317.x.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child
  • Codon, Nonsense / genetics*
  • Constriction, Pathologic / genetics
  • Constriction, Pathologic / pathology
  • Female
  • Fingers / pathology*
  • Humans
  • Keratin-9 / genetics*
  • Keratoderma, Palmoplantar, Epidermolytic / genetics*
  • Keratoderma, Palmoplantar, Epidermolytic / pathology*
  • Middle Aged
  • Sequence Analysis, DNA

Substances

  • Codon, Nonsense
  • KRT9 protein, human
  • Keratin-9