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Article

ELN gene triplication responsible for familial supravalvular aortic aneurysm.

Cardiology in the young - 1 Apr 2015

Guemann Anne-Sophie, Andrieux Joris, Petit Florence, Halimi Emmanuel, Bouquillon Sonia, Manouvrier-Hanu Sylvie, Van De Kamp Jiddeke, Boileau Catherine, Hanna Nadine, Jondeau Guillaume, Vaksmann Guy, Houfflin-Debarge Veronique, Holder-Espinasse Muriel

Abstract excerpt

Supravalvular aortic aneurysms are less frequent than abdominal ones. Among Supravalvular aortic aneurysm aetiologies, we focused on dystrophic lesions as they can be secondary to genetic causes such as elastin anomaly. We report on a familial 7q11.23 triplication - including the ELN gene - segregating with a supravalvular aortic aneurysm. During her first pregnancy, our index patient was diagnosed with tuberous...

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Share to Aortic Aneurysm, Thoracic
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24932728
DOI: 10.1017/S1047951114000766

Genes

ELN
TSC1
LIMK1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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