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The Genetic Basis of Turner Syndrome Aortopathy

Our goal is to identify the genetic underpinnings of bicuspid aortic valve and aortopathy in Turner syndrome. We performed whole exome sequencing on 188 Turner syndrome study subjects from the GenTAC registry. A gene-based burden test, SKAT-O, was used to evaluate the data using bicuspid aortic valv...

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Detalles Bibliográficos
Publicado en:Am J Med Genet C Semin Med Genet
Main Authors: Corbitt, Holly, Gutierrez, Jacob, Silberbach, Michael, Maslen, Cheryl L
Formato: Artigo
Idioma:Inglês
Publicado: 2019
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6425936/
https://ncbi.nlm.nih.gov/pubmed/30770620
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.c.31686
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