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

出版年份 2020 全文链接

标题

作者

关键词

KAT5, TIP60, brain malformations, epilepsy, intellectual disability, sleep disturbance, epigenetic, histone acetyltransferase, histone

出版物

Volume 107, Issue 3, Pages 564-574

出版商

Elsevier BV

发表日期

2020-08-20

DOI

10.1016/j.ajhg.2020.08.002

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