Identification and characterization of novel mutations in MOGS in a Chinese patient with infantile spams
Abstract
Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of disorders caused by the defects in the synthesis and processing of glycoproteins. CDG is caused by mannosyl-oligosaccharide glucosidase (MOGS) deficiency, and is an extremely rare type, and only six patients have been reported. Here, we report a patient from China with facial dysmorphism, infantile spams, developmental delay, low vison, and abnormal liver...
Paper Details
Title
Identification and characterization of novel mutations in MOGS in a Chinese patient with infantile spams
Published Date
Jan 10, 2020
Journal
Volume
21
Issue
2
Pages
97 - 104
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