Associated Papers
Partial atrioventricular canal defect and aortic coarctation associated with variants in GDF1 and NOTCH1 genes: A case report.
Putotto C et al.
Birth Defects Research, 2024
An update on the molecular diagnosis of congenital heart disease: focus on loss-of-function mutations.
Li YJ et al.
Expert Review of Molecular Diagnostics, 2017
28274167 (PubMed )
Supplement: supplement_1.doc
Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans.
Karkera JD et al.
American Journal of Human Genetics, 2007
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