Associated Papers
A Recurrent c.416C>T Variant in the B3GAT3 Gene in the Turkish Population: Report of Two Siblings and Expanding the Clinical Spectrum.
Daşar T et al.
Molecular Syndromology, 2024
Severe phenotypes of B3GAT3-related disorder caused by two heterozygous variants: a case report and literature review.
Li Y et al.
Bmc Medical Genomics, 2022
Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies.
Haouari W et al.
Journal of Inherited Metabolic Disease, 2020
Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes.
Ritelli M et al.
Genes, 2019
The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review.
Colman M et al.
Orphanet Journal of Rare Diseases, 2019
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