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Article

Functional Cathepsin C mutations cause different Papillon-Lefèvre syndrome phenotypes.

Journal of clinical periodontology - 1 Apr 2008

Noack Barbara, Görgens Heike, Schacher Beate, Puklo Magda, Eickholz Peter, Hoffmann Thomas, Schackert Hans Konrad

Abstract excerpt

AIM: The autosomal-recessive Papillon-Lefèvre syndrome (PLS) is characterized by severe aggressive periodontitis, combined with palmoplantar hyperkeratosis, and is caused by mutations in the Cathepsin C (CTSC) gene. This study aimed to identify CTSC mutations in different PLS phenotypes, includin...

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Source

Identifiers

PMID: 18294227
DOI: 10.1111/j.1600-051X.2008.01201.x

Genes

CTSC

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18294227-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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