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Article

Exome Sequencing Identifies Candidate Genetic Modifiers of Syndromic and Familial Thoracic Aortic Aneurysm Severity.

Journal of cardiovascular translational research - 1 Aug 2017

Landis Benjamin J, Schubert Jeffrey A, Lai Dongbing, Jegga Anil G, Shikany Amy R, Foroud Tatiana, Ware Stephanie M, Hinton Robert B

Abstract excerpt

Thoracic aortic aneurysm (TAA) is a genetic disease predisposing to aortic dissection. It is important to identify the genetic modifiers controlling penetrance and expressivity to improve clinical prognostication. Exome sequencing was performed in 27 subjects with syndromic or familial TAA presenting with extreme phenotypes (15 with severe TAA; 12 with mild or absent TAA). Family-based analysis of a subset of the...

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Identifiers

PMID: 28550590
DOI: 10.1007/s12265-017-9753-1
PMCID: PMC5702585

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

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