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
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