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Novel CTSC mutations in a patient with Papillon–Lefèvre syndrome with recurrent pyoderma and minimal oral and palmoplantar involvement

✍ Scribed by M. Castori; S. Madonna; L. Giannetti; G. Floriddia; M. Milioto; S. Amato; D. Castiglia

Book ID
108670339
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
373 KB
Volume
160
Category
Article
ISSN
0007-0963

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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

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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