Associated Papers
Hematologically important mutations: Leukocyte adhesion deficiency (second update).
Roos D et al.
Blood Cells, Molecules & Diseases, 2023
Defining the mild variant of leukocyte adhesion deficiency type II (SLC35C1-congenital disorder of glycosylation) and response to l-fucose therapy: Insights from two new families and review of the literature.
Tahata S et al.
American Journal of Medical Genetics. Part A, 2022
Biallelic variants in SLC35C1 as a cause of isolated short stature with intellectual disability.
Knapp KM et al.
Journal of Human Genetics, 2020
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