Associated Papers
Case Report: Newly discovered ELN gene mutation in congenital heart disease: case analysis and review.
Cheng P et al.
Frontiers in Pediatrics, 2026
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq
A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field.
El Malti R et al.
European Journal of Human Genetics : Ejhg, 2016
Congenital heart disease: Molecular diagnostics of supravalvular aortic stenosis.
Tassabehji M et al.
Methods in Molecular Medicine, 2006
Elastin: mutational spectrum in supravalvular aortic stenosis.
Metcalfe K et al.
European Journal of Human Genetics : Ejhg, 2000
[Supravalvular aortic stenosis. Autosomal dominant form of congenital cardiopathy].
Pierquin G et al.
Journal De Genetique Humaine, 1988
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