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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保存先:
書誌詳細
出版年:Mol Genet Genomic Med
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: John Wiley and Sons Inc. 2020
主題:
Original Articles
オンライン･アクセス: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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