Common deletion variants causing protocadherin-α deficiency contribute to the complex genetics of BAV and left-sided congenital heart disease

Bicuspid aortic valve (BAV) with ∼1%–2% prevalence is the most common congenital heart defect (CHD). It frequently results in valve disease and aorta dilation and is a major cause of adult cardiac surgery. BAV is genetically linked to rare left-heart obstructions (left ventricular outflow tract obst...

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Detalles Bibliográficos
Autores principales: Teekakirikul, Polakit, Zhu, Wenjuan, Gabriel, George C., Young, Cullen B., Williams, Kylia, Martin, Lisa J., Hill, Jennifer C., Richards, Tara, Billaud, Marie, Phillippi, Julie A., Wang, Jianbin, Wu, Yijen, Tan, Tuantuan, Devine, William, Lin, Jiuann-huey, Bais, Abha S., Klonowski, Jonathan, de Bellaing, Anne Moreau, Saini, Ankur, Wang, Michael X., Emerel, Leonid, Salamacha, Nathan, Wyman, Samuel K., Lee, Carrie, Li, Hung Sing, Miron, Anastasia, Zhang, Jingyu, Xing, Jianhua, McNamara, Dennis M., Fung, Erik, Kirshbom, Paul, Mahle, William, Kochilas, Lazaros K., He, Yihua, Garg, Vidu, White, Peter, McBride, Kim L., Benson, D. Woodrow, Gleason, Thomas G., Mital, Seema, Lo, Cecilia W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8653519/
https://www.ncbi.nlm.nih.gov/pubmed/34888534
http://dx.doi.org/10.1016/j.xhgg.2021.100037

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