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[Analysis of a case of Multiple pterygium syndrome due to a novel variant of CHRNG gene].

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

Chen Yiru, Nong Tianying, Shi Weizhe, Li Jiangui, Ding Xuejiao, Li Yue, Zhu Mingwei, Xu Hongwen

Abstract excerpt

OBJECTIVE: To explore the clinical characteristics and genetic etiology of a child with multiple pterygium syndrome (MPS). METHODS: A child with MPS who was treated at the Orthopedics Department of Guangzhou Women and Children's Medical Center Affiliated to Guangzhou Medical University on August 19, 2020 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the...

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PMID: 37212003
DOI: 10.3760/cma.j.cn511374-20220107-00009

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