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[Analysis of ASXL3 gene variant in a child with Bainbridge-Ropers syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Mar 2021

Duan Fuhua, Zhai Yiwen, Kong Xiangdong

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a child affected with Bainbridge-Ropers syndrome. METHODS: Genomic DNA was extracted from peripheral venous blood samples from the patient and his parents. Whole exome sequencing (WES) was carried out to detect genetic variant of the proband. Candidate variant was verified by Sanger sequencing. RESULTS: The 3-year-old boy presented with psychomotor retardation,...

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PMID: 33751541
DOI: 10.3760/cma.j.cn511374-20200219-00089

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