ArticleEuropean journal of medical genetics2017
Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm.
Article in European journal of medical genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.
- Prevalence of Intracranial Aneurysm in Patients with Aortopathy: A Systematic Review with Meta-Analyses.Journal of stroke · 2020Pooled it
- Identification of Monogenic Causes of Arterial Ischemic Stroke in Children with Arteriopathies by Next-Generation Sequencing.International journal of molecular sciences · 2025Article
- Novel mutation in ELN gene causes cardiac abnormalities and inguinal hernia: case report.BMC pediatrics · 2023Article
- Comparison of Genes Associated with Thoracic and Abdominal Aortic Aneurysms.Aorta (Stamford, Conn.) · 2023Article
- Identification and characterization of novel elastin gene mutations in eleven families with supravalvular aortic stenosis.Frontiers in genetics · 2022Article
- Elastic tissue disruption is a major pathogenic factor to human vascular disease.Molecular biology reports · 2021Review
- Genetic Etiology of Left-Sided Obstructive Heart Lesions: A Story in Development.Journal of the American Heart Association · 2021Review
- Extracellular matrix dynamics in vascular remodeling.American journal of physiology. Cell physiology · 2020Review
- A Novel Splice-Site Mutation in theThe application of clinical genetics · 2020Article
- Human aortic aneurysm genomic dictionary: is it possible?Indian journal of thoracic and cardiovascular surgery · 2019Article
- Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2019 Update and Clinical Implications.Aorta (Stamford, Conn.) · 2019Article
- Elastin-driven genetic diseases.Matrix biology : journal of the International Society for Matrix Biology · 2018Review
- Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2018 Update and Clinical Implications.Aorta (Stamford, Conn.) · 2018Article
- Genes Associated with Thoracic Aortic Aneurysm and Dissection: An Update and Clinical Implications.Aorta (Stamford, Conn.) · 2017Review
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
Abstract
Pathogenic germline mutations in ELN can be detected in patients with supravalvular aortic stenosis. The mutation might occur de novo or be inherited following an autosomal dominant pattern of inheritance. In this report we describe a three-generation family suffering from supravalvular aortic stenosis, various other arterial stenoses, sudden death, and intracranial aneurysms. A frameshift mutation in exon 12, not described before, was detected in the affected family members. This report emphasises the importance of family history, genetic counselling, and demonstrates the great variability in the phenotype within a single SVAS family.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.