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Article

A novel desmoplakin mutation causes dilated cardiomyopathy with palmoplantar keratoderma as an early clinical sign.

Journal of the European Academy of Dermatology and Venereology : JEADV - 1 Aug 2022

Karvonen V, Harjama L, Heliö K, Kettunen K, Elomaa O, Koskenvuo J W, Kere J, Weckström S, Holmström M, Saarela J, Ranki A, Heliö T, Hannula-Jouppi K

Abstract excerpt

BACKGROUND: PPKs represent a heterogeneous group of disorders with hyperkeratosis of palmar and/or plantar skin. PPK, hair shaft abnormalities, cardiomyopathy and arrhythmias can be caused by mutations in desmosomal genes, e.g. desmoplakin (DSP). PPK should trigger genetic testing to reveal mutations with possible related cardiac disease. OBJECTIVES: To report a large multigenerational family with a novel DSP...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 35445468
DOI: 10.1111/jdv.18164
PMCID: PMC9545885

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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