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Article

[Echocardiographic manifestation and analysis of TGFBR1 gene variant in a Chinese patient with Loeys-Dietz syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2021

Wang Yueli, Niu Baorong, Li Rongjuan, Xie Jinjie, Li Xiaoyan

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a patient with aortic root aneurysm and valve insufficiency. METHODS: The patient was subjected to whole exome sequencing (WES) with a focus on the analysis of genes related to aortic aneurysm and other genetic diseases involving the cardiovascular system. Suspected pathogenic site was validated by Sanger sequencing of the patient and his family members. RESULTS: WES...

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Identifiers

PMID: 34839511
DOI: 10.3760/cma.j.cn511374-20200819-00612

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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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