Associated Papers
A Mild Skeletal Dysplasia Caused by a Biallelic Missense Variant in the SLC35D1 Gene.
Esen TE et al.
Molecular Syndromology, 2023
A novel SLC35D1 variant causing milder phenotype of Schneckenbecken dysplasia in a large pedigree.
Özer L et al.
American Journal of Medical Genetics. Part A, 2022
Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review.
Lipiński P et al.
Diagnostics (basel, Switzerland), 2021
Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human.
Hiraoka S et al.
Nature Medicine, 2007
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