De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder - Snijders Blok, Lot; Kleefstra, Tjitske; Venselaar, Hanka; Maas, Saskia; Kroes, Hester Y.; Lachmeijer, Augusta M.A.; van Gassen, Koen L.I.; Firth, Helen V.; Tomkins, Susan; Bodek, Simon; Õunap, Katrin; Wojcik, Monica H.; et al. (American journal of human genetics, 2019)
Keywords: Amino Acid Sequence; Brain-1; BRET assay; Child; de novo variants; Female; FOXP2; Gene Expression Regulation; Genetic Association Studies; Genotype; Humans; intellectual disability; luciferase reporter; Male; Mutation; Neurodevelopmental Disorders - etiology; Neurodevelopmental Disorders - pathology; POU Domain Factors - chemistry; POU Domain Factors - genetics; POU3F2; POU3F3; Protein Conformation; Sequence Homology; speech/language disorder; Transcriptional Activation; speech/language disorder; luciferase reporter; Brain-1; BRET assay; de novo variants; POU3F2; POU3F3; intellectual disability; FOXP2