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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

2020The American Journal of Human Genetics38 citationsDOIOpen Access PDF

Topics & Concepts

BiologyChromodomainGeneticsChromatin remodelingHistoneChromatinNeuroscienceGeneRNAHelicaseGenomics and Chromatin DynamicsGenetics and Neurodevelopmental DisordersChromatin Remodeling and Cancer
De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy | Litcius