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[Analysis of clinical features and ZBTB18 gene variant in a child with autosomal dominant mental disorder type 22].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Mar 2022

Zhang Jia, Li Yang, Luo Huan, Shen Yajun, Yuan Meng, Yang Zuozhen, Gan Jing

Abstract excerpt

OBJECTIVE: To analyze the clinical characteristics and ZBTB18 gene variant in a child with epilepsy and global developmental delay. METHODS: Clinical data and laboratory examination of the patient were reviewed. Whole exome sequencing (WES) was also carried out for the family trio. RESULTS: The main manifestations of the child included global developmental delay, short stature, epileptic seizures. EEG revealed...

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PMID: 35315038
DOI: 10.3760/cma.j.cn511374-20210630-00556

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