Novel insights into diabetes mellitus due to DNAJC3-defect: Evolution of neurological and endocrine phenotype in the pediatric age group.
Zeynep Alev OzonAyfer AlikasifogluNurgun KandemirBusra AydinE Nazli GoncBeren KaraosmanogluNur Berna CelikNesibe G Eroglu-ErtugrulEkim Z TaskiranGoknur HalilogluKader Karli OguzPelin Ozlem KiperDilek YalnizogluGulen Eda UtineMehmet AlikasifogluPublished in: Pediatric diabetes (2020)
Biallelic loss-of-function in the ER co-chaperone DNAJC3 leads to a new form of diabetes with early onset hyperinsulinemic hypoglycemia evolving into insulin deficiency as well as severe growth failure, hypothyroidism and diffuse neurodegeneration.