Article
Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics.
Diabetologia - 1 Feb 2022
Patel Kashyap A, Ozbek Mehmet N, Yildiz Melek, Guran Tulay, Kocyigit Cemil, Acar Sezer, Siklar Zeynep, Atar Muge, Colclough Kevin, Houghton Jayne, Johnson Matthew B, Ellard Sian, Flanagan Sarah E, Cizmecioglu Filiz, Berberoglu Merih, Demir Korcan, Catli Gonul, Bas Serpil, Akcay Teoman, Demirbilek Huseyin, Weedon Michael N, Hattersley Andrew T
Abstract excerpt
AIMS/HYPOTHESIS: Current clinical guidelines for childhood-onset monogenic diabetes outside infancy are mainly focused on identifying and testing for dominantly inherited, predominantly MODY genes. There are no systematic studies of the recessively inherited causes of monogenic diabetes that are likely to be more common in populations with high rates of consanguinity. We aimed to determine the contribution of...
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