GATA4 gene mutation in congenital heart disease
10.3760/cma.j.issn.1673-4408.2015.02.024
- VernacularTitle:先天性心脏病GATA4基因突变研究进展
- Author:
Yanli ZHANG
- Publication Type:Journal Article
- Keywords:
GATA4 gene;
Mutation database;
Congenital heart disease
- From:
International Journal of Pediatrics
2015;42(2):203-206
- CountryChina
- Language:Chinese
-
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.
