A novel variant in ALG1 gene associated with congenital disorder of glycosylation: A case report and short literature review
ConclusionsThe case reported herein adds to the mutations identified in ALG1-CDG and a review of this literature expands the study of the phenotypic and genotypic spectrum of this disorder.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Yan Xue,
Yiran Zhao,
Bo Wu,
Jianbo Shu,
Dandan Yan,
Dong Li,
Xiaoli Yu,
Chunquan Cai Tags: CLINICAL REPORT Source Type: research
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