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Novel Mutations in the <i>Cathepsin C</i> Gene in Patients with Pre-pubertal Aggressive Periodontitis and Papillon-Lefèvre Syndrome

1 May 2004

Abstract excerpt

Aggressive periodontitis (AP) in pre-pubertal children is often associated with genetic disorders like Papillon-Lefèvre syndrome (PLS). PLS is caused by mutations in the cathepsin C (CTSC) gene. We report a novel CTSC mutation (c.566-572del) in an otherwise healthy AP child and two novel compound heterozygous mutations (c.947T>G, c.1268G>C) in a PLS patient. We conclude that at least a subset of pre-pubertal AP...

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Identifiers

PMID: 15111626
DOI: 10.1177/154405910408300503

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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