Data from: Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation
Michael Hildebrand, Victoria Jackson, Thomas Scerri, Olivia Van Reyk, Matthew Coleman, Ruth Braden, Samantha Turner, Kristin Rigbye, Amber Boys, Sarah Barton, Richard Webster, Michael Fahey, Kerryn Saunders, Bronwyn Parry-Fielder, Georgia Paxton, Michael Hayman, David Coman, Himanshu Goel, Anne Baxter, Alan Ma, Noni Davis, Sheena Reilly, Martin Delatycki, Frederique Liégeois, Alan Connelly … & Angela Morgan
Objective: Determining the genetic basis of speech disorders provides insight into the neurobiology of human communication. Despite intensive investigation over the past two decades, the etiology of most children with speech disorder remains unexplained. Here we searched for a genetic etiology in children with severe speech disorder, specifically childhood apraxia of speech (CAS). Methods: Precise phenotyping together with research genome or exome analysis were performed on children referred with a primary diagnosis of CAS, as...