Article
Phenotype-driven molecular autopsy for sudden cardiac death.
Clinical genetics - 1 Jan 2017
Cann F, Corbett M, O'Sullivan D, Tennant S, Hailey H, Grieve J H K, Broadhurst P, Rankin R, Dean J C S
Abstract excerpt
A phenotype-driven approach to molecular autopsy based in a multidisciplinary team comprising clinical and laboratory genetics, forensic medicine and cardiology is described. Over a 13 year period, molecular autopsy was undertaken in 96 sudden cardiac death cases. A total of 46 cases aged 1-40 years had normal hearts and suspected arrhythmic death. Seven (15%) had likely pathogenic variants in ion channelopathy...
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