Article
The evolving course of HNF4A hyperinsulinaemic hypoglycaemia--a case series.
Diabetic medicine : a journal of the British Diabetic Association - 1 Jan 2014
McGlacken-Byrne S M, Hawkes C P, Flanagan S E, Ellard S, McDonnell C M, Murphy N P
Abstract excerpt
BACKGROUND: Hepatocyte nuclear factor 4 alpha (HNF4A) gene mutations have a well-recognized role in maturity-onset diabetes of the young and have recently been described in congenital hyperinsulinism. A biphasic phenotype has been postulated, with macrosomia and congenital hyperinsulinism in infancy, and diabetes in young adulthood. In this case series, we report three children with HNF4A mutations (two de novo)...
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