Indepth characterization of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2
Lottie D. Morison, Elisabeth Meffert, Miriam Stampfer, Irene Steiner-Wilke, Brigitte Vollmer, Katrin Schulze, Tracy Ann Briggs, Ruth O. Braden, Adam P. Vogel, Daisy G.Y. Thompson-Lake, Chirag Patel, Edward M. Blair, Himanshu Goel, Samantha J. Turner, Ute Moog, , Angela Tamsin Morgan
This study characterizes 29 individuals with FOXP2 variants, showing high prevalence of speech disorders and language impairments, with relatively specific phenotypes compared to other monogenic conditions.
medRxiv · Jun 1, 2022 · PreprintGenetic & Genomic Medicine