Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

被引：0

作者：

Mark E Lindsay

Dorien Schepers

Nikhita Ajit Bolar

Jefferson J Doyle

Elena Gallo

Justyna Fert-Bober

Marlies J E Kempers

Elliot K Fishman

Yichun Chen

Loretha Myers

Djahita Bjeda

Gretchen Oswald

Abdallah F Elias

Howard P Levy

Britt-Marie Anderlid

Margaret H Yang

Ernie M H F Bongers

Janneke Timmermans

Alan C Braverman

Natalie Canham

Geert R Mortier

Han G Brunner

Peter H Byers

Jennifer Van Eyk

Lut Van Laer

Harry C Dietz

Bart L Loeys

机构：

[1] Helen B Taussig Children's Heart Center,Department of Pediatrics

[2] Johns Hopkins University School of Medicine,Department of Medicine, Division of Cardiology

[3] Howard Hughes Medical Institute,Department of Human Genetics

[4] McKusick-Nathans Institute of Genetic Medicine,Russell H Morgan Department of Radiology and Radiological Science

[5] Johns Hopkins University School of Medicine,Department of Clinical Genetics

[6] Center of Medical Genetics,Department of Pathology

[7] Faculty of Medicine and Health Sciences,Department of Genetics

[8] University of Antwerp and Antwerp University Hospital,Department of Cardiology

[9] Bayview Proteomics Center,Department of Medicine

[10] Johns Hopkins University,Department of Clinical Genetics

[11] Radboud University Nijmegen Medical Centre,Department of Pediatrics and Genetics

[12] Institute for Genetic and Metabolic Disorders,undefined

[13] Radboud University Nijmegen Medical Centre,undefined

[14] Johns Hopkins School of Medicine,undefined

[15] Karolinska Institute,undefined

[16] Karolinska University Hospital,undefined

[17] University of Washington School of Medicine,undefined

[18] University of Washington School of Medicine,undefined

[19] Radboud University Nijmegen Medical Center,undefined

[20] Washington University School of Medicine,undefined

[21] North West Thames Regional Genetics Service,undefined

[22] Northwick Park Hospital,undefined

[23] Ghent University,undefined

来源：

Nature Genetics | 2012年 / 44卷

关键词：

D O I：

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中图分类号：

学科分类号：

摘要：

Bart Loeys and colleagues identify mutations or deletions of TGFB2 in individuals with thoracic aortic aneurysm and other features of Loeys-Dietz syndrome. TGFB2 encodes the transforming growth factor-β2 ligand.

引用

页码：922 / 927

页数：5

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