Article
Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog.
Clinical genetics - 1 Feb 2019
Digilio M C, Pugnaloni F, De Luca A, Calcagni G, Baban A, Dentici M L, Versacci P, Dallapiccola B, Tartaglia M, Marino B
Abstract excerpt
The atrioventricular canal defect (AVCD) is a congenital heart defect (CHD) frequently associated with extracardiac anomalies (75%). Previous observations from a personal series of patients with AVCD and "polydactyly syndromes" showed that the distinct morphology and combination of AVCD features in some of these syndromes is reminiscent of the cardiac phenotype found in heterotaxy, a malformation complex...
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