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Semin Cell Dev Biol. 2007 Feb;18(1):132-9. Epub 2006 Dec 20.

The genetics of cardiac birth defects.

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  • 1Gladstone Institute of Cardiovascular Disease and the Department of Pediatrics, University of California at San Francisco, 1650 Owens Street, San Francisco, CA 94158, United States.


Congenital heart disease likely results from a complex mixture of environmental and genetic factors. Recent work has elucidated rare single gene mutations that cause a variety of cardiac defects, but the etiologies of more common disease remains unknown. Here, we review the known genetic causes of cardiac malformations and discuss future approaches for addressing sporadic congenital heart disease as a complex trait.

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