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[Analysis of RECQL4 gene variant in a child with Rothmund-Thomson syndrome].

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

Wu Qiuping, Weng Weiqi, Yuan Jinna, Xu Xiaoqin, Huang Ke, Dong Guanping, Fu Junfen, Wu Wei

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a child with Rothmund-Thomson syndrome (RTS). METHODS: The child has featured poikeloderma, short stature, cataract, sparse hair and skeletal malformation. Peripheral blood samples of the child and her family members were collected and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing. RESULTS: The child was found to harbor...

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PMID: 34964962
DOI: 10.3760/cma.j.cn511374-20201020-00736

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