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Article

Novel LTBP3 mutations associated with thoracic aortic aneurysms and dissections.

Orphanet journal of rare diseases - 14 Dec 2021

Zhu Guoyan, Luo Mingyao, Chen Qianlong, Zhang Yinhui, Zhao Kun, Zhang Yujing, Shu Chang, Yang Hang, Zhou Zhou

Abstract excerpt

BACKGROUND: Thoracic aortic aneurysm and dissection (TAAD) is a hidden-onset but life-threatening disorder with high clinical variability and genetic heterogeneity. In recent years, an increasing number of genes have been identified to be related to TAAD. However, some genes remain uncertain because of limited case reports and/or functional studies. LTBP3 was such an ambiguous gene that was previously known for...

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Identifiers

PMID: 34906192
DOI: 10.1186/s13023-021-02143-2
PMCID: PMC8670144

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