A novel partial de novo duplication of JARID2 gene causing a neurodevelopmental phenotype.
Liisa ViitasaloKaisa KettunenMatti KankainenElina H NiemeläKirsi KiiskiPublished in: Molecular genetics & genomic medicine (2022)
Our data add to the variety of different pathogenic variants associated with JARID2 neurodevelopmental syndrome.