Article
Two novel frameshift mutations in <i>NKX2.5</i> result in novel features including visceral inversus and sinus venosus type ASD
1 Nov 2002
Abstract excerpt
ecently, heterozygous mutations of human NKX2.5 were identified in patients with congenital heart disease. 1 2 The most common phenotypes were progressive atrioventricular conduction delays (AV block) and secundum atrial septal defect (ASD), but other anatomical abnormalities, such as ventricular septal defect, tetralogy of Fallot, or tricuspid valve abnormalities, including Ebstein's anomaly, and progressive...
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