1. A Novel Splice-Site Mutation in the ELN Gene Suggests an Alternative Mechanism for Vascular Elastinopathies


    Camilo Andres Velandia-Piedrahita et al, 2020, The Application of Clinical Genetics CrossRef
  2. Emerging mechanisms of elastin transcriptional regulation
    Sara S. Procknow et al, 2022, American Journal of Physiology-Cell Physiology CrossRef
  3. Genetic Testing for Supravalvar Aortic Stenosis: What to Do When It Is Not Williams Syndrome
    Sara B. Stephens et al, 2024, Journal of the American Heart Association CrossRef
  4. Identification and characterization of novel elastin gene mutations in eleven families with supravalvular aortic stenosis
    Jianrong Zhou et al, 2022, Frontiers in Genetics CrossRef