Congenital disorder of glycosylation with defective fucosylation 2 (FCSK gene defect): The third report in the literature with a mild phenotype

Congenital disorder of glycosylation with defective fucosylation 2 (FCSK gene defect): The third report in the literature with a mild phenotype

Abstract 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 unrela...

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Chi tiết về thư mục
Những tác giả chính:	Abeer Al Tuwaijri, Yusra Alyafee, Muhammad Umair, Arwa Alsubait, Mashael Alharbi, Hamad AlEidi, Mariam Ballow, Mohammed Aldrees, Qamre Alam, Abdulkareem Al Abdulrahman, Muhammad Talal Alrifai, Majid Alfadhel
Định dạng:	Bài viết
Ngôn ngữ:	English
Được phát hành:	Wiley 2023-04-01
Loạt:	Molecular Genetics & Genomic Medicine
Những chủ đề:	developmental delay FCSK Fucokinase Fucosylation glycosylation
Truy cập trực tuyến:	https://doi.org/10.1002/mgg3.2117

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