A Novel Mutation of the Cathepsin C Gene in a Thai Family With Papillon-Lefèvre Syndrome
✍ Scribed by Nitta, Hiroshi; Wara-aswapati, Nawarat; Lertsirivorakul, Jinda; Nakamura, Tsutomu; Yamamoto, Matsuo; Izumi, Yuichi; Nakamura, Toshiaki; Ishikawa, Isao
- Book ID
- 126814469
- Publisher
- American Academy of Periodontology
- Year
- 2005
- Tongue
- English
- Weight
- 175 KB
- Volume
- 76
- Category
- Article
- ISSN
- 0022-3492
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
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
Papillon Lefèvre syndrome (PLS) is an autosomal recessive disorder characterized by palmoplantar hyperkeratosis and severe periodontitis. The disease is caused by mutations in the cathepsin C gene (CTSC) that maps to chromosome 11q14. CTSC gene mutations associated with PLS have been correlated with