De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy
Titel:
De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy
Auteur:
Humbert, Jonathan Salian, Smrithi Makrythanasis, Periklis Lemire, Gabrielle Rousseau, Justine Ehresmann, Sophie Garcia, Thomas Alasiri, Rami Bottani, Armand Hanquinet, Sylviane Beaver, Erin Heeley, Jennifer Smith, Ann C.M. Berger, Seth I. Antonarakis, Stylianos E. Yang, Xiang-Jiao Côté, Jacques Campeau, Philippe M.