Associated Papers
B3GALT6 mutations lead to compromised connective tissue biomechanics in Ehlers-Danlos syndrome.
Diana RM et al.
Jci Insight, 2025
Mutant B3GALT6 in a Multiplex Family: A Dominant Variant Co-Segregated With Moderate Malformations.
Shen F et al.
Frontiers in Genetics, 2022
Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.
Caraffi SG et al.
Genes, 2019
Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families.
Vorster AA et al.
Clinical Genetics, 2015
Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder.
Malfait F et al.
American Journal of Human Genetics, 2013
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