Preserved expressive language as a phenotypic determinant of Mosaic Angelman Syndrome

ConclusionClinical 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.

Source: Molecular Genetics & Genomic Medicine - August 9, 2019 Category: Genetics & Stem Cells Authors: Robert P. Carson, Lynne Bird, Anna K. Childers, Ferrin Wheeler, Jessica Duis Tags: ORIGINAL ARTICLE Source Type: research