Expanding the phenome and variome of the ROBO-SLIT pathway in congenital heart defects: toward improving the genetic testing yield of CHD

Expanding the phenome and variome of the ROBO-SLIT pathway in congenital heart defects: toward improving the genetic testing yield of CHD

Abstract Background Recent studies have shown the implication of the ROBO-SLIT pathway in heart development. Within this study, we aimed to further assess the implication of the ROBO and SLIT genes mainly in bicuspid aortic valve (BAV) and other human congenital heart defects (CHD). Methods We have...

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Bibliographic Details
Main Authors: Hager Jaouadi, Chris Jopling, Fanny Bajolle, Alexis Théron, Adèle Faucherre, Hilla Gerard, Sarab Al Dybiat, Caroline Ovaert, Damien Bonnet, Jean-François Avierinos, Stéphane Zaffran
Format: Article
Language:English
Published: BMC 2023-02-01
Series:Journal of Translational Medicine
Subjects:
Congenital heart defects
Robo-Slit pathway
Genetics
Exome sequencing
Online Access:https://doi.org/10.1186/s12967-023-03994-y

Internet

https://doi.org/10.1186/s12967-023-03994-y

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