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...

Cur síos iomlán

Sonraí bibleagrafaíochta
Príomhchruthaitheoirí:	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
Formáid:	Alt
Teanga:	English
Foilsithe / Cruthaithe:	Wiley 2023-04-01
Sraith:	Molecular Genetics & Genomic Medicine
Ábhair:	developmental delay FCSK Fucokinase Fucosylation glycosylation
Rochtain ar líne:	https://doi.org/10.1002/mgg3.2117

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