De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy

Published 2020 View Full Article

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Title
De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy
Authors
Keywords
KAT5, TIP60, brain malformations, epilepsy, intellectual disability, sleep disturbance, epigenetic, histone acetyltransferase, histone
Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 107, Issue 3, Pages 564-574
Publisher
Elsevier BV
Online
2020-08-20
DOI
10.1016/j.ajhg.2020.08.002

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