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Article

Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm.

European journal of medical genetics - 1 Feb 2017

Jelsig Anne Marie, Urban Zsolt, Hucthagowder Vishwanathan, Nissen Henrik, Ousager Lilian Bomme

Abstract excerpt

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,...

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Source

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Identifiers

PMID: 27866049
DOI: 10.1016/j.ejmg.2016.11.004
PMCID: PMC5843366

Genes

ELN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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