Publication
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 Garcia, Rami Alasiri, Armand Bottani, Sylviane Hanquinet, Erin Beaver, Jennifer Heeley, Ann C.M. Smith, Seth I. Berger, Stylianos E. Antonarakis, Xiang-Jiao Yang, Jacques Côté, Philippe M. Campeau
The American Journal of Human Genetics, August 2020, Elsevier
DOI: 10.1016/j.ajhg.2020.08.002