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Department of Clinical Studies - Philadelphia
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Section of Medical Genetics - PennGen
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Congenital Heart Diseases

Since 1970, NIH supported research investigations (Patterson) have been aimed at understanding the embryologic pathogenesis and genetic defects underlying two forms of congenital heart disease that are among the most common in both dogs and humans: 1) Conotruncal defects, including ventricularseptal defect, tetralogy of Fallot, peristent truncus arteriosus and 2) Patent ductus arteriosus. Current research is aimed at identifying the genes for these defects by linkage mapping, followed by cloning and characterization of the genes and investigating their expression in the heart during embryologic development.

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