Complete homozygous deletion of CTSC in an Iranian family with Papillon-Lefèvre syndrome

Int J Dermatol. 2014 Jul;53(7):885-7. doi: 10.1111/j.1365-4632.2012.05769.x. Epub 2013 Apr 4.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Base Sequence*
  • Cathepsin C / genetics*
  • Chromosomes, Human, Pair 11 / genetics*
  • DNA Mutational Analysis
  • Female
  • Homozygote
  • Humans
  • Iran
  • Male
  • Papillon-Lefevre Disease / genetics*
  • Pedigree
  • Sequence Deletion*
  • Young Adult

Substances

  • CTSC protein, human
  • Cathepsin C