Cathepsin C gene 5'-untranslated region mutation in papillon-lefèvre syndrome.

@article{Kosem2012CathepsinCG,
  title={Cathepsin C gene 5'-untranslated region mutation in papillon-lef{\`e}vre syndrome.},
  author={Rok Kosem and Maru{\vs}a Debeljak and Barbka Repi{\vc} Lampret and Aleksej Kansky and Tadej Battelino and Katarina Trebu{\vs}ak Podkraj{\vs}ek},
  journal={Dermatology},
  year={2012},
  volume={225 3},
  pages={193-203}
}
BACKGROUND Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder characterized by palmoplantar keratoderma together with a severe form of generalized aggressive periodontitis and associated with mutations in cathepsin C gene (CTSC). OBJECTIVE To investigate the clinical and mutational characteristics of 6 PLS patients from 4 unrelated… CONTINUE READING