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[Analysis of clinical features and pathogenic variants in a Chinese pedigree affected with congenital glycosylation disease].

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

Fan Rui, Lu Honghua, Lu Feiyu, Li Xiaoping, Zhao Shengnan, Shi Hongfeng, Zhang Yining

Abstract excerpt

OBJECTIVE: To explore the clinical features and genetic basis for a Chinese pedigree diagnosed with congenital glycosylation disease (CGD). METHODS: Clinical manifestations of two brothers were analyzed. Whole exome sequencing was carried out for the sib pair. Suspected variants were verified by Sanger sequencing. RESULTS: Both the proband and her younger brother were found to carry compound heterozygous variants...

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PMID: 34964965
DOI: 10.3760/cma.j.cn511374-20201026-00748

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