Ontology highlight
ABSTRACT:
SUBMITTER: Pan Y
PROVIDER: S-EPMC10644019 | biostudies-literature | 2023 Oct
REPOSITORIES: biostudies-literature
Pan Yu Y Liu Manli M Zhang Songsong S Mei Huaxian H Wu Jing J
Translational pediatrics 20231019 10
<h4>Background</h4>The most prevalent cyanotic congenital heart disease (CHD) phenotype is tetralogy of Fallot (TOF). Rare genetic variations have been identified as significant risk factors for CHD. Thus, this research sought to identify the pathogenic variations and molecular etiologies of TOF.<h4>Methods</h4>This study employed whole-exome sequencing (WES) and Sanger sequencing to identify pathogenic variations in DNA samples from patients with TOF. The pathogenicity of the variations was pre ...[more]