Open AccessClinical and molecular characterisation of 300 patients with congenital hyperinsulinism
European Journal Of EndocrinologyPeer ReviewedRitika R. Kapoor +52013Journals
Congenital hyperinsulinism (CHI) is a clinically heterogeneous condition. Mutations in eight genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, HNF4A and HNF1A) are known to cause CHI.
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