• A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia
• A Mild Skeletal Dysplasia Caused by a Biallelic Missense Variant in the <em>SLC35D1</em> Gene
• A novel SLC35D1 variant causing milder phenotype of Schneckenbecken dysplasia in a large pedigree
• A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1)
• Case report 693: Schneckenbecken dysplasia
• Case report 870. Schneckenbecken dysplasia, possibly a new variant
• Case report: neonatal platyspondylic dwarfism--a new form
• Congenital disorders of glycosylation. Part II. Defects of protein O-glycosylation
• Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases
• Lethal osteo-chondro-dysplasia: feto-pathological study of 32 cases
• Metatropic dysplasia lethal variants
• Molecular asymmetry in the 8-cell stage Xenopus tropicalis embryo described by single blastomere transcript sequencing
• Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human
• Perinatally lethal, short-limbed dwarfism with distinct features -- Schneckenbecken dysplasia
• Prenatal-onset <em>INPPL1</em>-related skeletal dysplasia in two unrelated families: Diagnosis and prediction of lethality
• Schneckenbecken dysplasia in fetus: report of four cases
• Schneckenbecken dysplasia, radiology, and histology
• Skeletal dysplasia, Schneckenbecken type