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Conotruncal cardiac defects MeSH Supplementary Concept Data 2025
Congenital heart abnormalities that are characterized by AORTIC COARCTATION; DOUBLE-OUTLET RIGHT VENTRICLE, and atrioventricular canal defects. SYNDACTYLY and POLYDACTYLY may also occur. Mutations in several genes have been identified, including CFC1, GDF1, NKX2-5, NKX2-6, TBX-1, and GATA6. OMIM: 217095