U.S., March 14 -- ClinicalTrials.gov registry received information related to the study (NCT07469566) titled 'Characterization of the Natural History of Microduplication Syndrome 7q11.23' on Dec. 05, 2025.
Brief Summary: 7q11.23 duplication syndrome (7q duplication syndrome/7DUP) is caused by a microduplication of the 7q11.23 chromosomal region, encompassing 26-28 genes, including the GTF2I gene. This syndrome, often considered as a "mirror" phenotype of Williams-Beuren syndrome (WBS), is characterized by a wide range of neurodevelopmental impairments, including a neurodevelopmental disorder (NDD), autism spectrum disorders (ASD), selective mutism, mild dysmorphic features, and aortic dilation. Notably, one of the core clinical features of...