The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III

The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III

Abstract Background Glycogen storage disease type III (GSD III) is a rare autosomal recessive glycogenolysis disorder due to AGL gene variants, characterized by hepatomegaly, fasting hypoglycemia, hyperlipidemia, elevated hepatic transaminases, growth retardation, progressive myopathy, and cardiomyo...

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Bibliographic Details
Main Authors: Jing Wang, Yuping Yu, Chunquan Cai, Xiufang Zhi, Ying Zhang, Yu Zhao, Jianbo Shu
Format: Article
Language:English
Published: BMC 2022-05-01
Series:BMC Pediatrics
Subjects:
Glycogen storage disease type III
AGL gene
Frameshift variant
Novel variant
Whole-exome sequencing
Online Access:https://doi.org/10.1186/s12887-022-03252-y

Internet

https://doi.org/10.1186/s12887-022-03252-y

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