A Natural History Study of Timothy Syndrome

被引：0
|
作者：
Katherine W. Timothy [1 ]
Rosemary Bauer [2 ]
Kerry A. Larkin [3 ]
Edward P. Walsh [2 ]
Dominic J. Abrams [4 ]
Cecilia Gonzalez Corcia [5 ]
Alexandra Valsamakis [5 ]
Geoffrey S. Pitt [6 ]
Ivy E. Dick [7 ]
Andy Golden [8 ]
机构：
[1] Charitable Organization,The Timothy Syndrome Foundation
[2] National Institute of Health,Laboratory of Biochemistry and Genetics, National Institute of Diabetes, Digestive, and Kidney Diseases
[3] Northwestern University Feinberg School of Medicine,Division of Endocrinology, Metabolism, and Molecular Medicine, Department of Medicine
[4] Yale School of Medicine,Department of Cell Biology
[5] Harvard Medical School,Department of Cardiology
[6] Boston Children’s Hospital,Department of Cardiology
[7] Sainte Justine Hospital,Clinical Development and Medical Affairs
[8] Roche Diagnostics Solutions,Cardiovascular Research Institute
[9] Weill Cornell Medicine,Department of Physiology, School of Medicine
[10] University of Maryland,undefined
来源：
Orphanet Journal of Rare Diseases | / 19卷 / 1期
关键词：
Timothy syndrome; Long QT; Syndactyly; Hypoglycemia; Neurodevelopmental delay; mutation;
D O I：
10.1186/s13023-024-03445-x
中图分类号：
学科分类号：
摘要：
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