De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy
Jonathan Humbert, Smrithi Salian, Periklis Makrythanasis, Gabrielle Lemire, Justine Rousseau, Sophie Ehresmann, Thomas X. Garcia, Rami Alasiri, Armand Bottani, Sylviane Hanquinet, Erin Beaver, Jennifer Heeley, Ann C. M. Smith, Seth Berger, Stylianos E. Antonarakis, Xiang‐Jiao Yang, Jacques Côté, Philippe M. Campeau
Topics & Concepts
BiologyChromodomainGeneticsChromatin remodelingHistoneChromatinNeuroscienceGeneRNAHelicaseGenomics and Chromatin DynamicsGenetics and Neurodevelopmental DisordersChromatin Remodeling and Cancer