Abstract
Transcription factor Islet-1 (ISL1) is a marker for cardiac progenitor cells that give rise to the outflow tract, right ventricular region and atrial tissue. Three ISL1 variants and the ISL1 haplotype have been associated with complex congenital heart disease (CHD). Since cardiac progenitors are important in cardiac growth, differentiation and function, we analyzed the association of ISL1 variants and haplotype with phenotype.
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