DYRK1B haploinsufficiency in a family with metabolic syndrome and abnormal cognition.
Naama OrensteinYoel GofinNoam ShomronNoa Ruhrman-ShaharNurit MagalOfir HagariNoy AzulayLily BazakYael GoldbergLina Basel-SalmonPublished in: Clinical genetics (2021)
A family with DYRK1B LOF variant offering to expand the phenotype beyond the metabolic syndrome.