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Article

Cathepsin C gene 5'-untranslated region mutation in papillon-lefèvre syndrome.

Dermatology (Basel, Switzerland) - 1 Jan 2012

Kosem Rok, Debeljak Maruša, Repič Lampret Barbka, Kansky Aleksej, Battelino Tadej, Trebušak Podkrajšek Katarina

Abstract excerpt

BACKGROUND: Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder characterized by palmoplantar keratoderma together with a severe form of generalized aggressive periodontitis and associated with mutations in cathepsin C gene (CTSC). OBJECTIVE: To investigate the clinical and mutational characteristics of 6 PLS patients from 4 unrelated Slovenian families. METHODS: CTSC mutational and functional...

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Identifiers

PMID: 23108224
DOI: 10.1159/000342509

Genes

CTSC

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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