Preserved expressive language as a phenotypic determinant of Mosaic Angelman Syndrome.
Robert P CarsonLynne BirdAnna K ChildersFerrin WheelerJessica DuisPublished in: Molecular genetics & genomic medicine (2019)
Clinical work-up of an individual with developmental delay, hyperactivity, anxiety, and an uncharacteristically happy demeanor should prompt methylation studies to rule out mAS. We expand the phenotypic spectrum of AS to include features that overlap with Prader-Willi such as hyperphagia.