Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures
Shenzhao Lu, Rebecca Hernan, Paul C. Marcogliese, Yan Huang, Tracy S. Gertler, Meltem Akçaboy, Shiyong Liu, Hyung-Lok Chung, Xueyang Pan, Xiaoqin Sun, Melahat Melek Oğuz, Ülkühan Öztoprak, Jeroen H. F. de Baaij, Jelena Ivanisevic, Erin McGinnis, María J. Guillen Sacoto, Wendy K. Chung, Hugo J. Bellen
Topics & Concepts
BiologyProbandPhenotypeLoss functionPhenocopyGeneticsMissense mutationEctopic expressionNeuroscienceGeneMutationCellular transport and secretionUbiquitin and proteasome pathwaysCardiomyopathy and Myosin Studies