Articles with "pkp2 variant" as a keyword



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A Novel Homozygous PKP2 Variant in Severe Neonatal Non-compaction and Concomitant Ventricular Septal Defect: A Case Report

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Published in 2022 at "Frontiers in Pediatrics"

DOI: 10.3389/fped.2021.801491

Abstract: Left ventricular non-compaction (LVNC) is a rare and genetically heterogeneous cardiomyopathy. The disorder vastly affects infants and young children. Severe neonatal LVNC is relatively rare. The prevalence of genetic defects underlying pediatric and adult-onset LVNC… read more here.

Keywords: novel homozygous; pkp2 variant; homozygous pkp2; non compaction ... See more keywords