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Article

A novel seven-base deletion of the CTSC gene identified in a Hungarian family with Papillon-Lefèvre syndrome.

Archives of dermatological research - 1 Jul 2013

Farkas Katalin, Paschali Ekaterine, Papp Ferenc, Vályi Péter, Széll Márta, Kemény Lajos, Nagy Nikoletta, Csoma Zsanett

Abstract excerpt

Papillon-Lefévre syndrome (PLS; OMIM 245000) is a rare autosomal recessive condition characterized by symmetrical palmoplantar hyperkeratosis and periodontal inflammation, causing loss of both the deciduous and permanent teeth. PLS develops due to mutations in the cathepsin C gene, CTSC. Recently we have identified a Hungarian PLS family with two affected siblings. Direct sequencing of the coding regions of the...

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Source

Identifiers

PMID: 23397598
DOI: 10.1007/s00403-013-1323-z

Genes

CTSC

Provenance

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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