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Article

Cathepsin C gene: First compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutation.

Human mutation - 1 Feb 2001

Allende L M, García-Pérez M A, Moreno A, Corell A, Carasol M, Martínez-Canut P, Arnaiz-Villena A

Abstract excerpt

Papillon-Lefèvre syndrome (PLS) has recently been shown to be caused by mutations in the cathepsin C gene resulting in periodontal disease and palmoplantar keratosis. Thirteen different homozygous mutations have been characterised in PLS patients of different ethnic origin. In the present paper, a PLS patient is described who carries two novel mutations (706G>T and 872G>A) in the paternal and maternal...

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Identifiers

PMID: 11180601
DOI: 10.1002/1098-1004(200102)17:2<152::AID-HUMU10>3.0.CO;2-#

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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