A Novel Phenotype of GCK c.781G>A Variant Causing Neonatal Refractory Hyperinsulinaemic Hypoglycaemia
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Glucokinase (GCK) mutations are well-known causes of maturity-onset diabetes of the young type 2 (MODY2) and hyperinsulinaemic hypoglycaemia type 3 (HH3). The GCK c.781G>A (p.Gly261Arg) variant has been exclusively reported in MODY2. We describe a term male in... ...
