Article
Transient neonatal diabetes due to a disease causing novel variant in the ATP-binding cassette subfamily C member 8 (ABCC8) gene unmasks maturity-onset diabetes of the young (MODY) diabetes cases within a family.
Journal of pediatric endocrinology & metabolism : JPEM - 23 Feb 2021
Giannopoulou Eleni Z, Ovcarov Olga, De Franco Elisa, Kassberger Fabian, Nusser Susanne, Otto Marie Celine, Denzer Christian, Wabitsch Martin
Abstract excerpt
OBJECTIVES: Neonatal diabetes mellitus (NDM) is a rare monogenic diabetes form, occurring mainly from ATP-binding cassette subfamily C member 8 (ABCC8) and KCNJ11 mutations. ABCC8 mutations have also been found to cause adult-onset diabetes. What is new?: •Novel ABCC8 mutation in an NDM case •Heterogeneous clinical presentation of diabetes and response to sulfonylurea therapy among family members with the same...
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