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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Publicat a:PLoS Genet
Autors principals: Corbitt, Holly, Morris, Shaine A., Gravholt, Claus H., Mortensen, Kristian H., Tippner-Hedges, Rebecca, Silberbach, Michael, Maslen, Cheryl L.
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2018
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Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6188895/
https://ncbi.nlm.nih.gov/pubmed/30281655
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1007692
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