Article
Congenital disorder of glycosylation with defective fucosylation 2 (FCSK gene defect): The third report in the literature with a mild phenotype.
Molecular genetics & genomic medicine - 1 Apr 2023
Al Tuwaijri Abeer, Alyafee Yusra, Umair Muhammad, Alsubait Arwa, Alharbi Mashael, AlEidi Hamad, Ballow Mariam, Aldrees Mohammed, Alam Qamre, Al Abdulrahman Abdulkareem, Alrifai Muhammad Talal, Alfadhel Majid
Abstract excerpt
BACKGROUND: Congenital disorders of glycosylation (CDG) are a group of heterogeneous disorders caused by abnormal lipid or protein glycosylation. Variants in the FCSK gene have been reported to cause CDG. Defective FCSK-induced CDG (FCSK-CDG) has only been reported previously in three unrelated children. METHODS: In this study, we genetically and clinically examined a 3-year-old proband with resolved infantile...
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