Partial atrioventricular canal defect and aortic coarctation associated with variants in GDF1 and NOTCH1 genes: A case report.

Carolina PutottoMarco MasciMonia MagliozziAntonio NovelliBruno MarinoMaria Cristina DigilioAlessandra Toscano

Published in: Birth defects research (2024)

The present report could support the hypothesis that the co-occurrence of cumulative variants may be considered as genetic predisposing risk factor for specific congenital heart defects.

Keyphrases

copy number
genome wide
aortic valve
cell proliferation
left ventricular
pulmonary artery
heart failure
coronary artery
gene expression
arterial hypertension
genome wide analysis