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
A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia.
Rautengarten C et al.
Human Molecular Genetics, 2019
Structural basis for mammalian nucleotide sugar transport.
Ahuja S et al.
Elife, 2019
Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases.
Furuichi T et al.
Journal of Medical Genetics, 2009
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