Pleiotropic Phenotypes Associated With PKP2 Variants.
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ABSTRACT:
SUBMITTER: Novelli V
PROVIDER: S-EPMC6305316 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
Publications
Pleiotropic Phenotypes Associated With PKP2 Variants.
Novelli Valeria V Malkani Kabir K Cerrone Marina M
Frontiers in cardiovascular medicine 20181218
Plakophilin-2 (PKP2) is a component of the desmosome complex and known for its role in cell-cell adhesion. Recently, alterations in the <i>Pkp2</i> gene have been associated with different inherited cardiac conditions including Arrythmogenic Cardiomyopathy (ACM or ARVC), Brugada syndrome (BrS), and idiopathic ventricular fibrillation to name the most relevant. However, the assessment of pathogenicity regarding the genetic variations associated with <i>Pkp2</i> is still a challenging task: the ge ...[more]
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