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Article

Contribution of exome sequencing for genetic diagnostic in arrhythmogenic right ventricular cardiomyopathy/dysplasia.

PloS one - 1 Jan 2017

Fedida Joel, Fressart Veronique, Charron Philippe, Surget Elodie, Hery Tiphaine, Richard Pascale, Donal Erwan, Keren Boris, Duthoit Guillaume, Hidden-Lucet Françoise, Villard Eric, Gandjbakhch Estelle

Abstract excerpt

BACKGROUND: Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (ARVC/D) is an inherited cardiomyopathy mainly caused by heterozygous desmosomal gene mutations, the major gene being PKP2. The genetic cause remains unknown in ~50% of probands with routine desmosomal gene screening. The aim of this study was to assess the diagnostic accuracy of whole exome sequencing (WES) in ARVC/D with negative genetic...

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Share to Arrhythmogenic Right Ventricular Dysplasia
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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: 28767663
DOI: 10.1371/journal.pone.0181840
PMCID: PMC5540585

Genes

PKP2
COX15
DSC2
DSG2
DSP
EYA4
JUP
PSEN1
RBM20
TMEM43

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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