Mutations in EBF3 disturb transcriptional profiles and underlie a novel syndrome of intellectual disability, ataxia and facial dysmorphism
Frederike Leonie Harms, Katta Mohan Girisha, Andrew A. Hardigan, Fanny Kortüm, Anju Shukla, Malik Alawi, Ashwin Dalal, Lauren Brady, Mark Tarnopolsky, Lynne M. Bird, Sophia Ceulemans, Martina Bebin, Kevin M. Bowling, Susan M. Hiatt, Edward J. Lose, , Kerstin Kutsche
The paper identifies EBF3 mutations in individuals with intellectual disability, ataxia, and facial dysmorphism, showing they impair transcriptional regulation and neuronal development.
bioRxiv · Aug 3, 2016 · PreprintGenetics