TIMP3 and TIMP1 are risk genes for bicuspid aortic valve and aortopathy in Turner syndrome

Volume: 14, Issue: 10, Pages: e1007692 - e1007692
Published: Oct 3, 2018
Abstract
Turner syndrome is caused by complete or partial loss of the second sex chromosome, occurring in ~1 in 2,000 female births. There is a greatly increased incidence of aortopathy of unknown etiology, including bicuspid aortic valve (BAV), thoracic aortic aneurysms, aortic dissection and rupture. We performed whole exome sequencing on 188 Turner syndrome participants from the National Registry of Genetically Triggered Thoracic Aortic Aneurysms and...
Paper Details
Title
TIMP3 and TIMP1 are risk genes for bicuspid aortic valve and aortopathy in Turner syndrome
Published Date
Oct 3, 2018
Volume
14
Issue
10
Pages
e1007692 - e1007692
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