conotruncal heart malformation

A congenital heart defect (OMIM:217095) characterised by cardiac outflow tract defects such as tetralogy of Fallot, pulmonary atresia, double-outlet right ventricle, truncus arteriosus communis, and aortic arch anomalies.

Molecular pathology
Caused by defects of CFC1, which encodes a member of the epidermal growth factor Cripto, Frl-1, Cryptic (CFC) family involved in signalling during embryonic development.

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