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Article

Identification of cathepsin C mutations in ethnically diverse papillon-Lefèvre syndrome patients.

Journal of medical genetics - 1 Dec 2000

Hart P S, Zhang Y, Firatli E, Uygur C, Lotfazar M, Michalec M D, Marks J J, Lu X, Coates B J, Seow W K, Marshall R, Williams D, Reed J B, Wright J T, Hart T C

Abstract excerpt

INTRODUCTION: Papillon-Lefèvre syndrome (PLS) is an autosomal recessive disorder characterised by palmoplantar keratoderma and severe, early onset periodontitis, which results from deficiency of cathepsin C activity secondary to mutations in the cathepsin C gene. To date, 13 different cathepsin C mutations have been reported in PLS patients, all of which are homozygous for a given mutation, reflecting...

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Identifiers

PMID: 11106356
DOI: 10.1136/jmg.37.12.927
PMCID: PMC1734492

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

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