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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Dettagli Bibliografici
Autori principali: 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
Natura: Articolo
Lingua:English
Pubblicazione: Wiley 2023-04-01
Serie:Molecular Genetics & Genomic Medicine
Soggetti:
developmental delay
FCSK
Fucokinase
Fucosylation
glycosylation
Accesso online:https://doi.org/10.1002/mgg3.2117

Accesso online

https://doi.org/10.1002/mgg3.2117

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