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
The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.
Maksiutenko EM et al.
International Journal of Molecular Sciences, 2023
38139401 (PubMed )
Supplement: ijms-24-17572-s001.zip › Supplementary_Table_S1.xlsx › Sheet1
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.
Byrne AB et al.
Nature Medicine, 2023
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
Congenital Disorders of Deficiency in Glycosaminoglycan Biosynthesis.
Mizumoto S et al.
Frontiers in Genetics, 2021
Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis.
Byrne AB et al.
Journal of Medical Genetics, 2020
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