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
Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes.
Ritelli M et al.
Genes, 2019
Bone and connective tissue disorders caused by defects in glycosaminoglycan biosynthesis: a panoramic view.
Paganini C et al.
The Febs Journal, 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
B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation.
Yauy K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Novel Splicing Mutation in B3GAT3 Associated with Short Stature, GH Deficiency, Hypoglycaemia, Developmental Delay, and Multiple Congenital Anomalies.
Bloor S et al.
Case Reports in Genetics, 2017
Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype.
Job F et al.
Bmc Medical Genetics, 2016
A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes.
Jones KL et al.
American Journal of Medical Genetics. Part A, 2015
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