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
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
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
Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
Shamseldin HE et al.
Genome Medicine, 2021
34645488 (PubMed )
Supplement: 13073_2021_973_MOESM1_ESM.xlsx › Sheet1
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
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue.
Alazami AM et al.
Human Genetics, 2016
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