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Article

A systematic study of mosaicism in heritable thoracic aortic aneurysm and dissection.

Genomics - 1 Jan 2022

Yang Hang, Zhu Guoyan, Zhou Weizhen, Luo Mingyao, Zhang Yujing, Zhang Yinhui, Shu Chang, Zhou Zhou

Abstract excerpt

Mosaicisms are often overlooked in routine molecular diagnosis. Although not common, they are of great significance for accurate diagnosis and genetic counseling. In this study, we systematically evaluated the frequency of mosaicisms in both asymptomatic parents and affected patients with thoracic aortic aneurysm and dissection (TAAD). Next-generation sequencing (NGS) data from 1085 patients was reanalyzed with a...

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Identifiers

PMID: 34921932
DOI: 10.1016/j.ygeno.2021.12.002

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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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