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Article

Confirmation of oxidative stress and fatty acid disturbances in two further Papillon-Lefèvre syndrome families with identification of a new mutation.

Journal of the European Academy of Dermatology and Venereology : JEADV - 1 Aug 2014

Bullón P, Morillo J M, Thakker N, Veeramachaneni R, Quiles J L, Ramírez-Tortosa M C, Jaramillo R, Battino M

Abstract excerpt

BACKGROUND: We have previously reported oxidative and fatty acids disturbances in one Papillon-Lefèvre syndrome (PLS) family. This Mendelian condition characterized by palmar plantar keratosis and severe aggressive periodontitis, is caused by mutations in the cathepsin C (CTSC) gene. In this study, we have analysed two further unrelated PLS families to confirm this association. METHODS: Mutations were identified...

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Source

Identifiers

PMID: 23998491
DOI: 10.1111/jdv.12265

Genes

CTSC

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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Confirmation of oxidative stress and fatty acid disturbances in two further Papillon-Lefèvre syndrome families with identification of a new mutation.PMID 23998491Read ↗

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Description of two new cathepsin C gene mutations in patients with Papillon-Lefèvre syndrome.Semantic proximity Read ↗

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