Associated Papers
Hematologically important mutations: Leukocyte adhesion deficiency (second update).
Roos D et al.
Blood Cells, Molecules & Diseases, 2023
Congenital disorders of glycosylation with defective fucosylation.
Hüllen A et al.
Journal of Inherited Metabolic Disease, 2021
Incidental diagnosis of leukocyte adhesion deficiency type II following ABO typing.
Cooper N et al.
Clinical Immunology (orlando, Fla.), 2020
Biallelic variants in SLC35C1 as a cause of isolated short stature with intellectual disability.
Knapp KM et al.
Journal of Human Genetics, 2020
Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect.
Dauber A et al.
Human Molecular Genetics, 2014
Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel testing.
Jones MA et al.
Molecular Genetics and Metabolism, 0
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