Expanding the phenotype of ASXL3‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3

The study aimed at widening the clinical and genetic spectrum of ASXL3 ‐related syndrome, a neurodevelopmental disorder, caused by truncating variants in the ASXL3 gene. In this international collaborative study, we have undertaken a detailed clinical and molecular analysis of 45 previously unpublished individuals with ASXL3 ‐related syndrome, as well as a review of all previously published individuals. We have reviewed the rather limited...