Article

From Genotype to Cardiac Phenotype: Cardiovascular Involvement in Syndromic and Metabolic Disorders

2026-07-15

Abstract excerpt

Cardiovascular disease is a leading cause of morbidity and premature mortality in many inherited syndromic and metabolic disorders. However, its cardiac manifestations are often recognized late and are rarely described collectively within a single cohort. We reviewed eight years of outsourced next-generation sequencing (NGS) requested through the pediatric genetics service of a single tertiary center in Taiwan and...

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Literature Corpus work: d21684bd-bfb7-531b-9323-5a2a5e66d231
DOI: 10.20944/preprints202607.1087.v1

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