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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Vydáno v:Mol Genet Genomic Med
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2020
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Original Articles
On-line přístup: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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