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Procedural decisions in the context of vascular substrate vulnerability: Lessons from vascular Ehlers-Danlos syndrome.

作者信息

Shalhub Sherene

机构信息

Division of Vascular and Endovascular Surgery, Department of Surgery, Oregon Health and Science University, Portland, OR.

Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR.

出版信息

J Vasc Surg Cases Innov Tech. 2025 Apr 29;11(4):101823. doi: 10.1016/j.jvscit.2025.101823. eCollection 2025 Aug.

DOI:10.1016/j.jvscit.2025.101823
PMID:40534705
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12174560/
Abstract
摘要

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本文引用的文献

1
Arteriovenous fistula following radial artery cannulation in a patient with vascular Ehlers-Danlos syndrome.一名患有血管性埃勒斯-当洛综合征的患者在桡动脉置管后发生动静脉瘘。
J Vasc Surg Cases Innov Tech. 2025 Apr 28;11(4):101822. doi: 10.1016/j.jvscit.2025.101822. eCollection 2025 Aug.
2
The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome.COL3A1基因的变异类型与血管性埃勒斯-当洛综合征的表型和严重程度相关。
Eur J Hum Genet. 2015 Dec;23(12):1657-64. doi: 10.1038/ejhg.2015.32. Epub 2015 Mar 11.
3
Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV).在血管型埃勒斯-当洛综合征（IV型EDS）中，生存受突变类型和分子机制的影响。
Genet Med. 2014 Dec;16(12):881-8. doi: 10.1038/gim.2014.72. Epub 2014 Jun 12.
4
Molecular diagnosis in vascular Ehlers-Danlos syndrome predicts pattern of arterial involvement and outcomes.血管型埃勒斯-当洛综合征的分子诊断可预测动脉受累模式及预后。
J Vasc Surg. 2014 Jul;60(1):160-9. doi: 10.1016/j.jvs.2014.01.070. Epub 2014 Mar 18.
5
COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy.COL3A1 杂合性不足可导致多种迟发性并发症和预期寿命更长的 Ehlers-Danlos 综合征 IV 型。
Genet Med. 2011 Aug;13(8):717-22. doi: 10.1097/GIM.0b013e3182180c89.