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[Genetic analysis of a child patient with rare fibrochondrogenesis due to COL11A1 gene variant].

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

Li Danyang, Zhang Chuan, Zhou Bingbo, Chen Xue, Wang Yupei, Hui Ling

Abstract excerpt

OBJECTIVE: To analyze the clinical data and genetic characteristics of a child with fibrocartilage hyperplasia type 1 (FBCG1). METHODS: A child who was admitted to Gansu Provincial Maternity and Child Health Care Hospital on January 21, 2021 due to severe pneumonia and suspected congenital genetic metabolic disorder was selected as the study subject. Clinical data of the child was collected, and genomic DNA was...

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PMID: 36972944
DOI: 10.3760/cma.j.cn511374-20221010-00676

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