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Xylosyltransferase-Deficiency in Human Dermal Fibroblasts Induces Compensatory Myofibroblast Differentiation and Long-Term ECM Reduction.
Japanese medaka Olpax6.1 mutant as a potential model for spondylo-ocular syndrome.
Bisphosphonate treatment at spondylo-ocular syndrome due to a novel compound heterozygote variant in XYLT2 and review of the literature.
Spondylo-ocular Syndrome Due to a Novel Variant in XYLT2 in an Omani Patient.
Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes.