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Article

Three Novel Mutations in FBN1 and TGFBR2 in Patients with the Syndromic Form of Thoracic Aortic Aneurysms and Dissections.

International heart journal - 26 Sept 2018

Cao Yingxi, Tan Hu, Li Zhuo, Linpeng Siyuan, Long Xigui, Liang Desheng, Wu Lingqian

Abstract excerpt

There are many inherited disorders associated with thoracic aortic aneurysms and dissections (TAADs), like Marfan syndrome and Loeys-Dietz syndrome (LDS). The 4 patients in this study all had TAADs and were initially diagnosed with suspected Marfan syndrome. We collected peripheral blood samples from the patients and their family members and then attempted to identify the causal mutation using different methods...

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Source

Identifiers

PMID: 30101859
DOI: 10.1536/ihj.18-046

Genes

FBN1
TGFBR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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