Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture.
Cohen, A. S. A.
Li, J. B. W.
Van Karnebeek, C.
Gibson, W. T.
JournalJournal of Pediatric Endocrinology & Metabolism : JPEM
RightsArchived with thanks to Journal of pediatric endocrinology & metabolism : JPEM
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Inheritance of two pathogenic ABCC8 alleles typically causes severe congenital hyperinsulinism. We describe a girl and her father, both homozygous for the same ABCC8 mutation, who presented with unusual phenotypes.