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[Analysis of CLCN4 gene variant in a child with Raynaud-Claes syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Oct 2023

Li Linfei, Luo Shuying, Mei Shiyue, Shang Qing, Zhang Wancun, Zhang Xiaoman, Liu Lei, Lei Zhi, Zhang Yaodong

Abstract excerpt

OBJECTIVE: To analyze the clinical phenotype and genetic variant in a child with Raynaud-Claes syndrome (RCS). METHODS: A child who was diagnosed with RCS at the Children's Hospital Affiliated to Zhengzhou University for delayed language and motor development in August 2022 was selected as the study subject. Clinical data of the child were collected, and potential genetic variant was detected by next-generation...

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PMID: 37730231
DOI: 10.3760/cma.j.cn511374-20221013-00685

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