Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect

Leukocyte adhesion deficiency type II is a hereditary disorder of neutrophil migration caused by mutations in the guanosine diphosphate-fucose transporter gene (SLC35C1). In these patients, inability to generate key fucosylated molecules including sialyl Lewis X leads to leukocytosis and recurrent i...

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Bibliografiske detaljer
Main Authors: Dauber, Andrew, Ercan, Altan, Lee, Jack, James, Philip, Jacobs, Pieter P., Ashline, David J., Wang, Sophie R., Miller, Timothy, Hirschhorn, Joel N., Nigrovic, Peter A., Sackstein, Robert
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2014
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Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4014190/
https://ncbi.nlm.nih.gov/pubmed/24403049
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu001
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