Project description:Our data are useful to expand the molecular spectrum of STAG1 pathogenic variants and to broaden our knowledge on the clinical phenotype associated.
Project description:This analysis includes the whole-genome screening of unbalanced chromosomal rearrangements (copy-number variants; CNV) in a boy with neurodevelopmental disorders and epilepsy.
Project description:We performed a targeted NGS using the commercial gene panel design ClearSeq Inherited Disease (Agilent Technologies) to identify the pathogenic sequence variants in two boys with neurodevelopmental disorders and epilepsy and their unaffected parents