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[Analysis of three patients with KBG syndrome and epileptic seizures due to variants of ANKRD11 gene].

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

Liu Chao, Ren Xianhui, Wang Luojun, Wei Zihan, Cao Mi, Li Guoyan, Wu Zhenyu, Deng Yanchun

Abstract excerpt

OBJECTIVE: To summarize the clinical phenotype and genotypic characteristics of 3 patients with KBG syndrome and epileptic seizure. METHODS: Clinical data of the patients were collected. Family-trio whole exon sequencing (WES) was carried out. Candidate variants were verified by Sanger sequencing. RESULTS: Patients 1 and 2 were boys, and patient 3 was an adult woman. All patients had epileptic seizures and mental...

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PMID: 35598261
DOI: 10.3760/cma.j.cn511374-20210107-00015

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Source receipt: pubmed, retrieved 7 Sept 2026.

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