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Full-Text Articles in Genetics and Genomics
Title, Fergus Ryan, D Devaney, Caroline Joyce, A Nestorowicz, M Permutt, Benjamin Glaser, Paul Thornton, David E. Barton
Title, Fergus Ryan, D Devaney, Caroline Joyce, A Nestorowicz, M Permutt, Benjamin Glaser, Paul Thornton, David E. Barton
Articles
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-1mutation 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.