Publication | Open Access

Defective Initiation of Glycosaminoglycan Synthesis due to B3GALT6 Mutations Causes a Pleiotropic Ehlers-Danlos-Syndrome-like Connective Tissue Disorder

Glycosaminoglycan SynthesisAutoimmune DiseaseDefective InitiationDisease MechanismMendelian DisorderPathogenesisImmunologyHistopathologyPathologyDegenerative DiseaseB3galt6 MutationsGeneral PathologySclerodermaMedicineCell BiologyLysosomal Storage DiseaseConnective Tissue Disease