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Article

FBN1 mutations largely contribute to sporadic non-syndromic aortic dissection.

Human molecular genetics - 15 Dec 2017

Tan Lun, Li Zongze, Zhou Chengming, Cao Yanyan, Zhang Lina, Li Xianqing, Cianflone Katherine, Wang Yan, Wang Dao Wen

Abstract excerpt

Mutations in FBN1 have been well identified in syndromic aortic dissection (AD) and familial thoracic aortic aneurysms and dissections. However, whether mutations of FBN1 contribute to sporadic non-syndromic AD and the characteristics of mutations remain unknown. Using next-generation-sequencing technology, FBN1 was sequenced in a total of 702 sporadic cases (including 687 of non-syndromic AD and 15 of sporadic...

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Source

Identifiers

PMID: 28973303
DOI: 10.1093/hmg/ddx360

Genes

FBN1

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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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