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Article

FBN1 mutations in patients with descending thoracic aortic dissections.

American journal of medical genetics. Part A - 1 Feb 2010

Brautbar Ariel, LeMaire Scott A, Franco Luis M, Coselli Joseph S, Milewicz Dianna M, Belmont John W

Abstract excerpt

Aortic aneurysm and dissection cause significant morbidity and mortality. There are several known single gene disorders that predispose to isolated aortic disease and eventually aneurysm and dissection. FBN1 mutations are associated with multiple clinical phenotypes, including Marfan syndrome (MF...

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Share to Aorta, Thoracic
Share to Aortic Aneurysm, Thoracic
Share to Aortic Dissection

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 20082464
DOI: 10.1002/ajmg.a.32856
PMCID: PMC3593235

Genes

FBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20082464-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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