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Congenital Hyperinsulinism in A Newborn with A Novel Homozygous Mutation (P.Q392H) in The ABCC8 Gene
(2014)
Congenital hyperinsulinism is the most frequent cause of persistent hypoglycemia in infancy. We present the case of a preterm, large-for-gestation-age infant with congenital hyperinsulinism who was found to have a novel ...