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
Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory.
Caswell RC et al.
Genome Medicine, 2022
35869530 (PubMed )
Supplement: 13073_2022_1082_MOESM1_ESM.xlsx › Additional_file_1
A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia.
Rautengarten C et al.
Human Molecular Genetics, 2019
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