Associated Papers
Novel insight into FCSK-congenital disorder of glycosylation through a CRISPR-generated cell model.
Fazelzadeh Haghighi M et al.
Molecular Genetics & Genomic Medicine, 2024
Congenital disorder of glycosylation with defective fucosylation 2 (FCSK gene defect): The third report in the literature with a mild phenotype.
Al Tuwaijri A et al.
Molecular Genetics & Genomic Medicine, 2023
A case with congenital disorder of glycosylation with defective fucosylation 2 and new mutation in FUK gene.
Özgün N et al.
Brain & Development, 2022
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