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
Identification and characterization of a novel ELN mutation in congenital heart disease with pulmonary artery stenosis.
Hou C et al.
Scientific Reports, 2021
Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis.
Micale L et al.
European Journal of Human Genetics : Ejhg, 2010
Elastin: mutational spectrum in supravalvular aortic stenosis.
Metcalfe K et al.
European Journal of Human Genetics : Ejhg, 2000
Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay.
Urbán Z et al.
Human Genetics, 2000
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