Associated Papers
Selecting the Substantially Touched Vertebra as the Lowest Instrumented Vertebra in Spinal Surgeries for B3GALT6 -Related Disorders: Clinical Experience and Literature Review.
Maheshati A et al.
Orthopaedic Surgery, 2025
Unraveling the genetic architecture of congenital vertebral malformation with reference to the developing spine.
Zhao S et al.
Nature Communications, 2024
38321032 (PubMed )
Supplement: 41467_2024_45442_MOESM6_ESM.xlsx › Sheet1
Predicted deleterious variants in the human genome relevant to gene therapy with adeno-associated virus vectors.
Rostami MR et al.
Molecular Therapy. Methods & Clinical Development, 2023
38089635 (PubMed )
Supplement: mmc2.xlsx › Supplemental_Table_II
Mutant B3GALT6 in a Multiplex Family: A Dominant Variant Co-Segregated With Moderate Malformations.
Shen F et al.
Frontiers in Genetics, 2022
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome.
Van Damme T et al.
Human Molecular Genetics, 2018
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