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Article

[Analysis of IQSEC2 gene variant in a child with X-linked mental retardation].

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

Zhao Jianbo, Yang Xinying, Li Jiuwei, Wang Hongmei, Zhang Weihua, Fang Fang

Abstract excerpt

OBJECTIVE: To analyze the clinical phenotype and genetic variants of a child with X-linked mental retardation caused by IQSEC2 gene mutation, and provide reference for the diagnosis of the disease. METHODS: The child was subjected to next generation sequencing (NGS), and the diagnosis was made by taking consideration of her clinical characteristics. RESULTS: The child has presented with global developmental...

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PMID: 35446980
DOI: 10.3760/cma.j.cn511374-20201030-00765

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