Periodic Reporting for period 1 - 7DUP (Characterization of 7q11.23 reciprocal aneusomy syndromes: from patients to functional pathways (and back))

Williams-Beuren Syndrome (WBS) and 7q11.23 microduplication syndrome (7dup) are two rare developmental disorders caused by the deletion or duplication, respectively, of a chromosome region at 7q11.23. Patients present opposite craniofacial characteristic ad cardiac...