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hrp0089p1-p058 | Diabetes & Insulin P1 | ESPE2018

Comprehensive Genetic Testing Shows One in Five Children with Diabetes and Non-Autoimmune Extra-Pancreatic Features Have Monogenic Aetiology

Patel Kashyap A , Colclough Kevin , Nuri Ozbek Mehmet , Yildiz Melek , Guran Tulay , Kocyigit Cemil , Acar Sezer , Siklar Zeynep , Atar Muge , Johnson Matt B , Flanagan Sarah E , Ellard Sian , Mine Cizmecioglu Filiz , Berberoglu Merih , Demir Korcan , Catli Gonul , Bas Serpil , Akcay Teoman , Demirbilek Huseyin , Weedon Michael N , Hattersley Andrew T

Background/Aim: Diabetes with extra-pancreatic features in children can have a monogenic aetiology. Single gene testing is undertaken when children present with the characteristic clinical features suggestive of the underlying aetiology. We aim to assess the utility of comprehensive genetic testing for all monogenic diabetes genes in children with diabetes and any non-autoimmune extra-pancreatic features from a population with a high rate of consanguinity.<p class="abstext...

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Comprehensive Genetic Testing Shows One in Five Children with Diabetes and Non-Autoimmune Extra-Pancreatic Features Have Monogenic Aetiology

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