A monoallelic UXS1 variant associated with short‐limbed short stature
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DOI: 10.1002/mgg3.2472
Abstract: Serine residues in the protein backbone of heavily glycosylated proteoglycans are bound to glycosaminoglycans through a tetrasaccharide linker. UXS1 encodes UDP‐glucuronate decarboxylase 1, which catalyzes synthesis of UDP‐xylose, the donor of the first building block… read more here.
Keywords: short stature; stature; uxs1 variant; variant associated ... See more keywords