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  • Title: Hyperinsulinism: molecular aetiology of focal disease.
    Author: Ryan F, Devaney D, Joyce C, Nestorowicz A, Permutt MA, Glaser B, Barton DE, Thornton PS.
    Journal: Arch Dis Child; 1998 Nov; 79(5):445-7. PubMed ID: 10193261.
    Abstract:
    Persistent hypoglycaemia in infancy is most commonly caused by hyperinsulinism. A case is reported of the somatic loss of the maternal 11p in an insulin secreting focal adenoma in association with a germline SUR-1 mutation on the paternal allele in a baby boy with hyperinsulinism diagnosed at 49 days old. A reduction to homozygosity of an SUR-1 mutation is proposed as a critical part of the cause of focal hyperinsulinism.
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