与TGFB2基因突变相关的胸主动脉瘤和夹层合并严重二尖瓣疾病。 - Suppr

Thoracic aortic-aneurysm and dissection in association with significant mitral valve disease caused by mutations in TGFB2.

作者信息

Renard Marjolijn, Callewaert Bert, Malfait Fransiska, Campens Laurence, Sharif Saba, del Campo Miguel, Valenzuela Irene, Mcwilliam Catherine, Coucke Paul, De Paepe Anne, De Backer Julie

出版信息

Int J Cardiol. 2013 May 25;165(3):584-7. doi: 10.1016/j.ijcard.2012.09.029. Epub 2012 Oct 25.

DOI:10.1016/j.ijcard.2012.09.029

PMID:23102774

Abstract

摘要

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Thoracic aortic-aneurysm and dissection in association with significant mitral valve disease caused by mutations in TGFB2.与TGFB2基因突变相关的胸主动脉瘤和夹层合并严重二尖瓣疾病。

Int J Cardiol. 2013 May 25;165(3):584-7. doi: 10.1016/j.ijcard.2012.09.029. Epub 2012 Oct 25.

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.TGFB2 突变导致家族性胸主动脉瘤和夹层，伴有马凡综合征的轻微全身特征。

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Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease.全外显子组测序用于鉴定参与一例非综合征性主动脉疾病家族病例的转化生长因子β2（TGFB2）中的新突变。

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Transforming growth factor-beta receptor type II mutation in a patient with bicuspid aortic valve disease and intraoperative aortic dissection.患者二叶式主动脉瓣疾病伴术中主动脉夹层的转化生长因子-β受体 II 型突变。

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TGFBR2 gene mutational spectrum in aortic pathology.主动脉病变中TGFBR2基因的突变谱

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The paradoxical TGF-β vasculopathies.矛盾的 TGF-β 血管病变。

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Perturbations of mechanotransduction and aneurysm formation in heritable aortopathies.机械转导的扰动与遗传性主动脉病变中的动脉瘤形成。

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The Genetics of Thoracic Aortic Aneurysms and Dissection: A Clinical Perspective.胸主动脉瘤和夹层的遗传学：临床视角。

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A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm.三名患有综合征型胸主动脉瘤的家庭成员中转化生长因子β2（TGFB2）存在1个碱基对的重复。

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Transforming Growth Factor Beta-2 Mutations in Barlow's Disease and Aortic Dilatation.巴氏病和主动脉扩张中的转化生长因子β-2突变

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Thoracic aortic-aneurysm and dissection in association with significant mitral valve disease caused by mutations in TGFB2.

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