Article
The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study.
Lancet (London, England) - 5 Sept 2015
De Franco Elisa, Flanagan Sarah E, Houghton Jayne A L, Lango Allen Hana, Mackay Deborah J G, Temple I Karen, Ellard Sian, Hattersley Andrew T
Abstract excerpt
BACKGROUND: Traditional genetic testing focusses on analysis of one or a few genes according to clinical features; this approach is changing as improved sequencing methods enable simultaneous analysis of several genes. Neonatal diabetes is the presenting feature of many discrete clinical phenotypes defined by different genetic causes. Genetic subtype defines treatment, with improved glycaemic control on...
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