The novel CTSC homozygous nonsense mutation p.Lys106X in a patient with Papillon-Lefèvre syndrome with all permanent teeth remaining at over 40 years of age

Br J Dermatol. 2013 Oct;169(4):948-50. doi: 10.1111/bjd.12429.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Cathepsin C / genetics*
  • Codon, Nonsense / genetics*
  • Consanguinity
  • Female
  • Homozygote
  • Humans
  • Papillon-Lefevre Disease / genetics*
  • Tooth*

Substances

  • Codon, Nonsense
  • CTSC protein, human
  • Cathepsin C