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Article

Whole-exome sequencing of pathogenic genes in a family with congenital heart disease: A case report.

Medicine - 2 Feb 2024

Chang Li, Ji Renhui, Sa Rina, Huge Jiletu, An Caiyan

Abstract excerpt

RATIONALE: Congenital heart disease (CHD) is the most common birth defect and an important cause of noninfectious deaths in infants and children. It has high prevalence globally, placing an enormous burden on society and families. Studies of individuals with hereditary or sporadic CHD have provided strong evidence for its genetic basis. The aim of this study was to identify causative gene variants in a Chinese...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38306576
DOI: 10.1097/MD.0000000000036977
PMCID: PMC10843419

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