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[Genetic analysis of a Chinese patient with congenital disorders of glycosylation-If].

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

Zhang Hua, Zhang Fuqing, Liu Min, Guo Huafeng

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a Chinese patient with congenital disorders of glycosylation-If (CDG-If). METHODS: Whole exome sequencing (WES) was carried out for the patient. RESULTS: The patient, a 5-year-old girl, has featured severe mental retardation. She had learned to walk at 4 years old and was only able to make sounds like "ma ma" occasionally. She was found to harbor compound heterozygous...

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PMID: 35810431
DOI: 10.3760/cma.j.cn511374-20201026-00750

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