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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Détails bibliographiques
Publié dans:Mol Genet Genomic Med
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: John Wiley and Sons Inc. 2020
Sujets:
Original Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7196453/
https://ncbi.nlm.nih.gov/pubmed/31985165
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1152
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