Case Report: Hypoinsulinaemic Hypoketotic Hypoglycaemia Due to an Activating Variant in AKT2
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AKT2 is a serine/threonine kinase that plays a key role in regulating insulin signalling. The gain-of-function alteration in the AKT2 gene (c.49G>A, p.Glu17Lys) has been described in 9 patients with clinical findings consisting in severe persistent hypoketotic... ...
