Ontology highlight
ABSTRACT:
SUBMITTER: Prendiville T
PROVIDER: S-EPMC4200204 | biostudies-literature | 2014 Oct
REPOSITORIES: biostudies-literature
Cold Spring Harbor perspectives in medicine 20141001 10
Study of monogenic congenital heart disease (CHD) has provided entry points to gain new understanding of heart development and the molecular pathogenesis of CHD. In this review, we discuss monogenic CHD caused by mutations of the cardiac transcription factor genes NKX2-5 and GATA4. Detailed investigation of these genes in mice and humans has expanded our understanding of heart development, shedding light on the complex genetic and environmental factors that influence expression and penetrance of ...[more]