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Article

Genotype-phenotype correlation in patients with bicuspid aortic valve and aneurysm.

The Journal of thoracic and cardiovascular surgery - 1 Jul 2013

Kent Kathleen C, Crenshaw Melissa L, Goh Denise L M, Dietz Harry C

Abstract excerpt

OBJECTIVES: Bicuspid aortic valve is the most common congenital cardiac abnormality, occurring in 1% to 2% of the population, and often associates with ascending aortic aneurysm. Based on familial studies, bicuspid aortic valve with aneurysm segregates in an autosomal dominant manner with incomplete penetrance. NOTCH1 mutations have been reported in 6 families with prominent valve calcification and dysfunction...

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

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Source

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Identifiers

PMID: 23102684
DOI: 10.1016/j.jtcvs.2012.09.060
PMCID: PMC3697122

Genes

NOTCH1

Variants

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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