Abstract
Background and objective Congenital hyperinsulinism (HI) causes severe hypoglycemia in neonates and infants. To date, more than 350 mutations have been reported in HI patients. However, the genetic screening has failed to define the genetic basis of disease in more than 18% of the cases, demonstrating that pathogenic mechanisms of HI have not been completely elucidated. Patients with HI can have novel mutations that have been announced. The study aims to describe novel mutations of ABCC8 and KCNJ11 of children with HI.
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