Congenital disorder of glycosylation with defective fucosylation 2 (FCSK gene defect): The third report in the literature with a mild phenotype.
Abeer Al TuwaijriYusra AlyafeeMuhammad UmairArwa A AlsubaitMashael AlharbiHamad AlEidiMariam BallowMohammed AldreesQamre AlamAbdulkareem Al AbdulrahmanMuhammad Talal AlrifaiMajid AlfadhelPublished in: Molecular genetics & genomic medicine (2022)
This study broadens the mutation and phenotypic spectrum of FCSK-associated developmental disorders.