A null variant in PUS3 confirms its involvement in intellectual disability and further delineates the associated neurodevelopmental disease.
作者信息
Abdelrahman Hanadi A, Al-Shamsi Aisha M, Ali Bassam R, Al-Gazali Lihadh
机构信息
College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.
Paediatrics Department, Tawam Hospital, Al-Ain, United Arab Emirates.
出版信息
Clin Genet. 2018 Dec;94(6):586-587. doi: 10.1111/cge.13443. Epub 2018 Oct 11.
PMID:30308082
Abstract
摘要
Zotero 插件