Late-onset Papillon-Lefèvre syndrome without alteration of the cathepsin C gene
✍ Scribed by Ulrike Pilger; Hans Christian Hennies; Astrid Truschnegg; Elisabeth Aberer
- Book ID
- 117393748
- Publisher
- Elsevier Science
- Year
- 2003
- Tongue
- English
- Weight
- 266 KB
- Volume
- 49
- Category
- Article
- ISSN
- 1097-6787
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## Communicated by Mark H. Paalman We have previously reported that loss-of-function mutations in the cathepsin C gene (CTSC) result in Papillon-Lefe `vre syndrome, an autosomal recessive condition characterized by palmoplantar keratosis and early-onset, severe periodontitis. Others have also repo
Papillon-Lefèvre syndrome (PLS) has recently been shown to be caused by mutations in the cathepsin C gene resulting in periodontal disease and palmoplantar keratosis. Thirteen different homozygous mutations have been characterised in PLS patients of different ethnic origin. In the present paper, a P