Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation
Keywords: CNV, copy number variants; ID, intellectual disabilities; OFC, occipital frontal circumference; vnts, variants; MC, miscarriage; wg, weeks of gestation; ASD, autism spectrum disordersNeurodevelopmental disorders; Epilepsy; Next generation sequencing; Copy