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Article

[Analysis of a child with X-linked mental retardation due to a de novo variant of DDX3X gene].

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

Wang Qiong, Yang Ying, Liu Lili, Tie Xiaoling, Lei Haihong, Zhang Liyu, Che Fengyu

Abstract excerpt

OBJECTIVE: To analyze the clinical characteristics and genetic variant of a child featuring X-linked mental retardation. METHODS: Whole exome sequencing and Sanger sequencing were used for the detection of variant and pedigree validation, respectively. Clinical manifestation of patients with DDX3X gene variants were also reviewed. RESULTS: The child was found to harbor a heterozygous NM_001193416.3:...

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PMID: 36184094
DOI: 10.3760/cma.j.cn511374-20210928-00783

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