Abstract
GATA4 gene mutations are common in children with congenital heart disease.More than 120 mutations have been found in ventricular septal defect, atrial septal defects and the tetralogy of fallot.But the relationship between genotype and clinical phenotype has not yet been elucidated.This article summarizes the published germline and somatic mutations of GATA4 gene in human congenital heart disease, and provides insight into the phenotypic spectrum of GATA4 gene mutation. Key words: GATA4 gene; Mutation database; Congenital heart disease
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