Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome

ABSTRACT: Among neonatal cardiomyopathies, primary endocardial fibroelastosis (pEFE) remains a mysterious disease of the endomyocardium that is poorly genetically characterized, affecting 1/5000 live births and accounting for 25% of the entire pediatric dilated cardiomyopathy (DCM) with a devastatin...

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Detalles Bibliográficos
Autores principales: Zhao, Yan, Wang, Lee-kai, Eskin, Ascia, Kang, Xuedong, Fajardo, Viviana M., Mehta, Zubin, Pineles, Stacy, Schmidt, Ryan J., Nagiel, Aaron, Satou, Gary, Garg, Meena, Federman, Myke, Reardon, Leigh C., Lee, Steven L., Biniwale, Reshma, Grody, Wayne W., Halnon, Nancy, Khanlou, Negar, Quintero-Rivera, Fabiola, Alejos, Juan C., Nakano, Atsushi, Fishbein, Gregory A., Van Arsdell, Glen S., Nelson, Stanley F., Touma, Marlin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8541947/
https://www.ncbi.nlm.nih.gov/pubmed/34387706
http://dx.doi.org/10.1007/s00109-021-02112-z

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