Clinical Findings and Diagnostic Yield of Arrhythmogenic Cardiomyopathy Through Genomic Screening of Pathogenic or Likely Pathogenic Desmosome Gene Variants.

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第一作者： Eric D,Carruth

第一单位： Department of Translational Data Science and Informatics (E.D.C., C.D.N., B.K.F., C.M.H.), Geisinger, Danville, PA.

作者： Eric D,Carruth ^[1] ; Dominik,Beer ^[2] ; Amro,Alsaid ^[2] ; Marci L B,Schwartz ^[3] ; Megan,McMinn ^[3] ; Melissa A,Kelly ^[3] ; Adam H,Buchanan ^[3] ; Christopher D,Nevius ^[1] ; Hugh,Calkins ^[4] ; Cynthia A,James ^[4] ; Brittney,Murray ^[4] ; Crystal,Tichnell ^[4] ; Martin E,Matsumura ^[2] ; H Lester,Kirchner ^[5] ; Brandon K,Fornwalt ^[1] ; Amy C,Sturm ^[2] ; Christopher M,Haggerty ^[6]

作者单位： Department of Translational Data Science and Informatics (E.D.C., C.D.N., B.K.F., C.M.H.), Geisinger, Danville, PA. ^[1] The Heart Institute (D.B., A.A., M.E.M., B.K.F., A.C.S., C.M.H.), Geisinger, Danville, PA. ^[2] Genomic Medicine Institute (M.L.B.S., M.M., M.A.K., A.H.B., A.C.S.), Geisinger, Danville, PA. ^[3] Division of Cardiology, Department of Medicine, Johns Hopkins Medical Center, Baltimore, MD (H.C., C.A.J., B.M., C.T.). ^[4] Department of Population Health Sciences (H.L.K.), Geisinger, Danville, PA. ^[5] Department of Radiology (B.K.F.), Geisinger, Danville, PA. ^[6]

关键词 arrhythmogenic right ventricular cardiomyopathy desmosome genetic screening genomics sudden cardiac death

主题词成年人(Adult);老年人(Aged);心律失常性右心室发育不良(Arrhythmogenic Right Ventricular Dysplasia);桥粒芯胶黏蛋白质类(Desmocollins);桥粒芯糖蛋白质2(Desmoglein 2);桥粒(Desmosomes);超声心动描记术(Echocardiography);女(雌)性(Female);遗传变异(Genetic Variation);心室(Heart Ventricles);人类(Humans);磁共振成像(Magnetic Resonance Imaging);男(雄)性(Male);中年人(Middle Aged);斑菲素蛋白质类(Plakophilins)

DOI 10.1161/CIRCGEN.120.003302

PMID 33684294

发布时间 2022-01-03

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Circulation. Genomic and precision medicine

2021年14卷2期

e003302页

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Clinical Findings and Diagnostic Yield of Arrhythmogenic Cardiomyopathy Through Genomic Screening of Pathogenic or Likely Pathogenic Desmosome Gene Variants.

Circulation. Genomic and precision medicine

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Clinical Findings and Diagnostic Yield of Arrhythmogenic Cardiomyopathy Through Genomic Screening of Pathogenic or Likely Pathogenic Desmosome Gene Variants.

Circulation. Genomic and precision medicine

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Circulation. Genomic and precision medicine

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