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

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

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 pe...

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Bibliographic Details
Main Authors: Holly Corbitt, Shaine A Morris, Claus H Gravholt, Kristian H Mortensen, Rebecca Tippner-Hedges, Michael Silberbach, Cheryl L Maslen, GenTAC Registry Investigators
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2018-10-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC6188895?pdf=render

Internet

http://europepmc.org/articles/PMC6188895?pdf=render

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