Article
A multicentre study of patients with Timothy syndrome.
Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology - 1 Feb 2018
Walsh Mark A, Turner Christian, Timothy Katherine W, Seller Neil, Hares Dominic L, James Andrew F, Hancox Jules C, Uzun Orhan, Boyce Dean, Stuart Alan G, Brennan Paul, Sarton Caroline, McGuire Karen, Newbury-Ecob Ruth A, Mcleod Karen
Abstract excerpt
Aims: Timothy syndrome (TS) is an extremely rare multisystem disorder characterized by marked QT prolongation, syndactyly, seizures, behavioural abnormalities, immunodeficiency, and hypoglycaemia. The aim of this study was to categorize the phenotypes and examine the outcomes of patients with TS. Methods and results: All patients diagnosed with TS in the United Kingdom over a 24-year period were reviewed. Fifteen...
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