… Here, we report the first case in humans of SLC35A3-related … spectrum, including skeletal
dysplasia. Previously reported … patient with human SLC35A3-related skeletal dysplasia with …

… (CVM), an autosomal recessive severe skeletal dysplasia found in Holstein cattle [10]. CVM
… and the pathogenic mechanisms of SLC35A3-related diseases. The generated mutant mice …

… Given the limited number of affected individuals with biallelic SLC35A3 variants, more
cases are needed to establish the genotype– phenotype correlation in SLC35A3-related …

… Not only connective tissue disorders including skeletal dysplasia, chondrodysplasia,
multiple exostoses, and Ehlers-Danlos syndrome, but also heart and kidney defects, immune …

… In this review, we will be focusing on the skeletal dysplasias caused by defects in the
glycosaminoglycan (GAG) biosynthesis and, more specifically, on the group of chondrodysplasias …

… altered in one patient with epilepsy and skeletal dysplasia (19) and was not tested in another
case (20). CDG screening … In summary, 15 cases were solved with a known gene defect. …

… Informed consent was obtained from the patients and their parents who presented to our
clinic for diagnosis of skeletal dysplasia and sample collection was performed using standard …

Nucleotide sugar transporters, encoded by the SLC35 gene family, deliver nucleotide
sugars throughout the cell for various glycosyltransferase-catalyzed glycosylation reactions. …

… impairment, which in some cases is accompanied by skeletal abnormalities [eg 12]. … in the
human SLC35A3 gene are associated with skeletal abnormalities (dysplasia, arthrogryposis) …

… The recently described patients with mutations in NANS suffer from developmental delay,
skeletal dysplasia and short stature (2). The authors reported excretion of ManNAc into body …