CAMK2D De Novo Missense Variant in Patient with Syndromic Neurodevelopmental Disorder: A Case Report.
Ekaterina R TolmachevaJekaterina ShubinaTaisiya O KochetkovaLubov' V UshakovaEkaterina L BokerijaGrigory S VasilievGalina V MikhaylovskayaEkaterina E AtapinaNadezhda V ZaretskayaGennady T SukhikhDenis V RebrikovDmitriy Yu TrofimovPublished in: Genes (2023)
We suggest that the CaMKIIδ Arg275His variant is highly likely the cause of dilated cardiomyopathy and neurodevelopmental disorders.