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

doi:10.3390/ijms27167080

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Article

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

International journal of molecular sciences - 7 Aug 2026

Lee Chung-Lin, Chang Ya-Hui, Chuang Chih-Kuang, Chiu Huei-Ching, Tu Yuan-Rong, Lo Yun-Ting, Wu Jun-Yi, Lin Hsiang-Yu, Lin Shuan-Pei

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 42653085
DOI: 10.3390/ijms27167080
PMCID: PMC13513472

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.