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Article

Genetic abnormalities in bicuspid aortic valve root phenotype: preliminary results.

European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery - 1 Jul 2017

Girdauskas Evaldas, Geist Lisa, Disha Kushtrim, Kazakbaev Iliaz, Groß Tatiana, Schulz Solveig, Ungelenk Martin, Kuntze Thomas, Reichenspurner Hermann, Kurth Ingo

Abstract excerpt

OBJECTIVES: Genetic defects associated with bicuspid aortopathy have been infrequently analysed. Our goal was to examine the prevalence of rare genetic variants in patients with a bicuspid aortic valve (BAV) with a root phenotype using next-generation sequencing technology. METHODS: We investigated a total of 124 patients with BAV with a root dilatation phenotype who underwent aortic valve ± proximal aortic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28387797
DOI: 10.1093/ejcts/ezx065

Genes

AXIN1
ELN
FBN1
NOS3
NOTCH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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