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Article

Contributions of Germline and Somatic Mosaic Genetics to Thoracic Aortic Aneurysms in Nonsyndromic Individuals.

Journal of the American Heart Association - 16 Jul 2024

Chen Ming Hui, Deng Ellen S, Yamada Jessica M, Choudhury Sangita, Scotellaro Julia, Kelley Lily, Isselbacher Eric, Lindsay Mark E, Walsh Christopher A, Doan Ryan N

Abstract excerpt

BACKGROUND: Thoracic aortic aneurysm (TAA) is associated with significant morbidity and mortality. Although individuals with family histories of TAA often undergo clinical molecular genetic testing, adults with nonsyndromic TAA are not typically evaluated for genetic causes. We sought to understand the genetic contribution of both germline and somatic mosaic variants in a cohort of adult individuals with...

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Identifiers

PMID: 38958128
DOI: 10.1161/JAHA.123.033232
PMCID: PMC11292778

Genes

FBN1
FLNA
NOTCH3

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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