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J Pediatr. 2011 May;158(5):852-4. doi: 10.1016/j.jpeds.2011.01.003. Epub 2011 Feb 24.

Hepatocyte nuclear factor 4α gene mutation associated with familial neonatal hyperinsulinism and maturity-onset diabetes of the young.

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1
Division of Pediatric Endocrinology and Metabolism, Rhode Island Hospital and Brown University, Providence, RI, USA.

Abstract

Neonatal macrosomia and hyperinsulinemic hypoglycemia with strong family history of diabetes may indicate monogenic diabetes. Here we report a family in which 4 individuals in 3 generations were found to have a mutation (Arg80Gln) in hepatocyte nuclear factor 4α. Genetic testing was a factor in choosing sulfonylurea therapy for diabetes.

PMID:
21353246
DOI:
10.1016/j.jpeds.2011.01.003
[Indexed for MEDLINE]
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