ABCC8 haploinsufficiency in a mother-daughter pair with young-onset diabetes with and without neonatal hypoglycemia
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The ATP-binding cassette transporter subfamily C member 8 (ABCC8) regulates insulin secretion from β-cells. Loss- and gain-of-function variants of ABCC8 have been implicated in neonatal hyperinsulinemic hypoglycemia and young-onset diabetes, respectively. Alt... ...
