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
Mendelian causes of early-onset emphysema: a review of the current literature.
Karabatic A et al.
European Respiratory Review : an Official Journal of the European Respiratory Society, 2025
A new diagnosis of Williams-Beuren syndrome in a 49-year-old man with severe bullous emphysema.
Wojcik MH et al.
American Journal of Medical Genetics. Part A, 2017
Haploinsufficiency of elastin gene may lead to familial cardiopathy and pulmonary emphysema.
Louw JJ et al.
American Journal of Medical Genetics. Part A, 2012
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