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Novel Mutations in the Cathepsin C Gene in Patients with Pre-pubertal Aggressive Periodontitis and Papillon-Lefevre Syndrome

✍ Scribed by Noack, B.; Gorgens, H.; Hoffmann, Th.; Fanghanel, J.; Kocher, Th.; Eickholz, P.; Schackert, H.K.

Book ID
121731127
Publisher
International and American Association of Dental Research
Year
2004
Tongue
English
Weight
479 KB
Volume
83
Category
Article
ISSN
0022-0345

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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