Associated Papers
B3GALT6-linkeropathy: Three illustrative patients spanning the disease spectrum.
Coetzer KC et al.
European Journal of Medical Genetics, 2023
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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