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Papillon-Lefèvre Syndrome with Homozygous Nonsense Mutation of Cathepsin C Gene Presenting with Late-Onset Periodontitis

✍ Scribed by Ragunatha, Shivanna; Ramesh, Mudalagirigowda; Anupama, Panagar; Kapoor, Meenakshi; Bhat, Meenakshi

Book ID
126836737
Publisher
John Wiley and Sons
Year
2014
Tongue
English
Weight
188 KB
Volume
32
Category
Article
ISSN
0736-8046

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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