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Article

Evaluating the monogenic contribution and genotype-phenotype correlation in patients with isolated thoracic aortic aneurysm.

European journal of human genetics : EJHG - 1 Jul 2021

Li Yang, Kong Yu, Duan Weixun, Yu Shiqiang, Zhou Xinmin, Hu Yerong, Ou Jing-Song, Yi Dinghua, Xie Jinsheng, Zhu Junming, Sun Lizhong, Li Yulin, Du Jie

Abstract excerpt

Thoracic aortic aneurysm with or without dissection (TAAD) can be broadly categorized as syndromic TAAD (sTAAD) and isolated TAAD (iTAAD). sTAAD and is highly correlated with genetics. However, although the incidence of iTAAD is much higher, its monogenic contribution is not yet clear. Here, we sequenced 15 known TAAD genes for 578 iTAAD cases from four cardiac centers in China and found that 10.6% patients with...

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Identifiers

PMID: 33824467
DOI: 10.1038/s41431-021-00857-2
PMCID: PMC8298584

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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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