Genetic analysis and prenatal diagnosis in a Chinese with growth retardation, abnormal liver function, and microcephaly

Genetic analysis and prenatal diagnosis in a Chinese with growth retardation, abnormal liver function, and microcephaly

Abstract Background Congenital disorders of glycosylation (CDG) are a genetically heterogeneous group of disorders caused by defects in the synthesis and processing of glycoproteins. COG6‐CDG is a kind of disorder caused by conserved oligomeric golgi complex 6 (COG6) deficiency. To date, only 19 pat...

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Bibliographic Details
Main Authors: Peiwei Zhao, Lei Zhang, Li Tan, Sukun Luo, Yufeng Huang, Hanming Peng, Jiangxia Cao, Xuelian He
Format: Article
Language:English
Published: Wiley 2021-09-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
abnormal liver function
COG6
congenital disorders of glycosylation
hypohidrosis
microcephaly
Online Access:https://doi.org/10.1002/mgg3.1751

Internet

https://doi.org/10.1002/mgg3.1751

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