DeSanto-Shinawi syndromeResearch
A novel de novo WAC frameshift variant has been identified in a patient with DeSanto-Shinawi syndrome, presenting with temporo-occipital epileptiform activity and congenital cardiac anomalies. This discovery adds to the understanding of the genetic underpinnings of this rare condition.
novel de novo wac frameshift variant in desanto shinawi syndrome with temporo occipital epileptiform activity and congenital cardiac anomalies
Original title: “A Novel de Novo WAC Frameshift Variant in DeSanto-Shinawi Syndrome With Temporo-Occipital Epileptiform Activity and Congenital Cardiac Anomalies.”