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Indian Pediatr. 2011 Sep;48(9):733-4.

Congenital hyperinsulinism caused by mutations in ABCC8 (SUR1) gene.

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1
Department of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, India. seemat3030@sify.com

Abstract

Congenital hyperinsulinism is the most frequent cause of severe, persistent hypoglycemia in infancy and childhood. We report a 2.5 year old girl with severe congenital hyperinsulinism. Mutation analysis showed that the child is a compound heterozygote for two missense mutations in the ABCC8 gene.

PMID:
21992908
[Indexed for MEDLINE]
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