Hyperinsulinism in infancy--genetic aspects.

Abstract excerpt

Hyperinsulinism in infancy (HI) is a heterogeneous disorder with respect to clinical presentation, genetics, histology and response to therapy. Advances in the understanding of the molecular basis of the disease have given the pediatric endocrinologists a better insight into the diagnosis and therapeutic choice. In 50-60% of cases, a genetic etiology is unraveled. Mutations in the genes encoding SUR1 (ABCC8) and...

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