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Article

Identification of novel mutation in cathepsin C gene causing Papillon-Lefèvre Syndrome in Mexican patients.

BMC medical genetics - 11 Jan 2013

Romero-Quintana José G, Frías-Castro Luis O, Arámbula-Meraz Eliakym, Aguilar-Medina Maribel, Dueñas-Arias Jesús E, Melchor-Soto Jesús D, Romero-Navarro José G, Ramos-Payán Rosalío

Abstract excerpt

BACKGROUND: Papillon-Lefèvre Syndrome (PLS) is a type IV genodermatosis caused by mutations in cathepsin C (CTSC), with a worldwide prevalence of 1-4 cases per million in the general population. In México, the prevalence of this syndrome is unknown, and there are few case reports. The diagnosis o...

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Source

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Identifiers

PMID: 23311634
DOI: 10.1186/1471-2350-14-7
PMCID: PMC3563609

Genes

CTSC

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23311634-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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