Article
Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation.
American journal of human genetics - 4 Jan 2018
Ng Bobby G, Xu Gege, Chandy Nandini, Steyermark Joan, Shinde Deepali N, Radtke Kelly, Raymond Kimiyo, Lebrilla Carlito B, AlAsmari Ali, Suchy Sharon F, Powis Zöe, Faqeih Eissa Ali, Berry Susan A, Kronn David F, Freeze Hudson H
Abstract excerpt
Fucosyltransferase 8 (FUT8) encodes a Golgi-localized α1,6 fucosyltransferase that is essential for transferring the monosaccharide fucose into N-linked glycoproteins, a process known as "core fucosylation." Here we describe three unrelated individuals, who presented with intrauterine growth retardation, severe developmental and growth delays with shortened limbs, neurological impairments, and respiratory...
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