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Article

Identification and surgical repair of familial thoracic aortic aneurysm and dissection caused by TGFBR1 mutation.

Annals of vascular surgery - 1 Nov 2014

Dong Song-Bo, Zheng Jun, Ma Wei-Guo, Chen Ming-Jie, Cheng Li-Jian, He Lin, Xing Qing-He, Sun Li-Zhong

Abstract excerpt

BACKGROUND: This study aimed at exploring the causative gene and summarizing the clinical characteristics in a Chinese thoracic aortic aneurysm and dissection (TAAD) family. METHODS: Family members were examined for features of syndromic genetic diseases by clinician and geneticist. Genomic DNA was extracted from 2 distantly related members with definite TAAD for exome sequencing. RESULTS: A pathogenic mutation...

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Identifiers

PMID: 25110237
DOI: 10.1016/j.avsg.2014.07.013

Genes

TGFBR1

Variants

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