Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: Expanding the spectrum of Timothy syndrome

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作者： Gillis,J. ^[1] ; Burashnikov,E. ^[2] ; Antzelevitch,C. ^[3] ; Blaser,S. ^[4] ; Gross,G. ^[5] ; Turner,L. ^[6] ; Babul-Hirji,R. ; Chitayat,D.

作者单位： Division of Cardiology, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON ^[1] Memorial University of Newfoundland, St. John's, Newfoundland, Canada ^[2] Division of Neuroradiology, The Hospital for Sick Children, University of Toronto, Toronto, ON ^[3] Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick ^[4] Maritime Medical Genetics Services, IWK Health Centre, Dalhousie University, Halifax, NS, Canada ^[5] Masonic Medical Research Laboratory, Utica, NY, United States ^[6]

关键词 Arrhythmia Autosomal dominant Long QT Seizure Syndactyly Timothy syndrome

发布时间 2013-11-20

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