Novel KLHL26 variant associated with a familial case of Ebstein’s anomaly and left ventricular noncompaction

BACKGROUND: Ebstein's anomaly (EA) is a rare congenital heart disease of the tricuspid valve and right ventricle. Patients with EA often manifest with left ventricular noncompaction (LVNC), a cardiomyopathy. Despite implication of cardiac sarcomere genes in some cases, very little is understood...

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Detalles Bibliográficos
Autores principales: Samudrala, Sai Suma K., North, Lauren M., Stamm, Karl D., Earing, Michael G., Frommelt, Michele A., Willes, Richard, Tripathi, Swarnendu, Dsouza, Nikita R., Zimmermann, Michael T., Mahnke, Donna K., Liang, Huan Ling, Lund, Michael, Lin, Chien‐Wei, Geddes, Gabrielle C., Mitchell, Michael E., Tomita‐Mitchell, Aoy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7196453/
https://www.ncbi.nlm.nih.gov/pubmed/31985165
http://dx.doi.org/10.1002/mgg3.1152

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