• A 6.7 kb deletion in the COL2A1 gene in a Holstein calf with achondrogenesis type II and perosomus elumbis
• A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations
• A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessi
• A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia
• A Novel Splicing Variant of <em>COL2A1</em> in a Fetus with Achondrogenesis Type II: Interpretation of Pathogenicity of In-Frame Deletions
• A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691--&gt;Arg) in the type II collagen trimer
• Achondrogenesis II-hypochondrogenesis: variability versus heterogeneity
• Achondrogenesis type 2 diagnosed by transvaginal ultrasound at 12 weeks' gestation
• Achondrogenesis Type 2 in a Newborn with a Novel Mutation on the <em>COL2A1</em> Gene
• Achondrogenesis Type 2 in a Newborn with a Novel Mutation on the COL2A1 Gene
• Achondrogenesis type I in three sibling fetuses. Scanning and transmission electron microscopic studies
• Achondrogenesis type I. A familial subvariant?
• Achondrogenesis type IB (Fraccaro): study of collagen in the tissue and in chondrocytes cultured in agarose
• Achondrogenesis type IB: agenesis of cartilage interterritorial matrix as the link between gene defect and pathological skeletal phenotype
• Achondrogenesis type II (Langer-Saldino)
• Achondrogenesis type II with polydactyly
• Achondrogenesis type II-hypochondrogenesis: radiological features.Case report
• An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita
• Antenatal diagnosis of lethal skeletal dysplasias
• Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias
• Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign
• Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies
• Case report 122: lethal short-limbed dwarfism: achondrogenesis type 2 (Fraccaro-Langer-Saldino)
• Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population
• Co-Occurence of Reciprocal Translocation and COL2A1 Mutation in a Fetus with Severe Skeletal Dysplasia: Implications for Genetic Counseling
• Collagen type II in Langer-Saldino achondrogenesis: absence of major abnormalities in a less severe case
• Computational biology insights into genotype-clinical phenotype-protein phenotype relationships between novel SLC26A2 variants identified in inherited skeletal dysplasias
• Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. II: Skeletal dysplasias
• Diagnosis of Prenatal-Onset Achondrogenesis Type II by a Multidisciplinary Assessment: A Retrospective Study of 2 Cases
• Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation
• Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis
• Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities
• Fetal imaging in the skeletal dysplasias: overview and experience
• Functional analysis of diastrophic dysplasia sulfate transporter. Its involvement in growth regulation of chondrocytes mediated by sulfated proteoglycans
• Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells
• Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family
• In vitro proteoglycan sulfation derived from sulfhydryl compounds in sulfate transporter chondrodysplasias
• Lethal neonatal chondrodysplasias in the West of Scotland 1970-1983 with a description of a thanatophoric, dysplasialike, autosomal recessive disorder, Glasgow variant
• Lethal osteo-chondro-dysplasia: feto-pathological study of 32 cases
• Lethal short-limbed chondrodysplasia in early infancy
• Molecular heterogeneity of proteoglycan aggregates of human hyalin cartilage in normal conditions and in systemic bone dysplasia
• Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance
• Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype
• New subtype of familial achondrogenesis type IA (Houston-Harris)
• New subtype of familial achondrogenesis type IA (Houston-Harris)
• Nonexpression of cartilage type II collagen in a case of Langer-Saldino achondrogenesis
• Nonimmunologic hydrops fetalis. A study of ten cases
• Normal lipid composition of fibroblasts from a case of type II achondrogenesis
• Pathologic diagnosis of achondrogenesis type 2 in a fragmented fetus: case report and evidence-based differential diagnostic approach in the early midtrimester
• Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia
• Prenatal diagnosis of osteochondrodysplasias in high risk pregnancy
• Prenatal sonographic diagnosis of skeletal dysplasias
• Prevalence of bone dysplasias in newborns at the Ruíz y Páez Hospital in Bolívar City. Venezuela. 1978-1990
• Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: relationship to clinical severity and indications on the role of intracellular sulfate production
• Radiologic Features of Type II and Type XI Collagenopathies
• Recessive multiple epiphyseal dysplasia - Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes
• Recurrence of achondrogenesis type 2 in sibs: Additional evidence for germline mosaicism
• Skeletal dysplasias of the fetus and infant: comprehensive review and our experience over a 10-year period
• Skeletal dysplasias: 38 prenatal cases
• Somatic mosaicism and the phenotypic expression of COL2A1 mutations
• Specific skeletal dysplasias in utero: sonographic diagnosis
• Spondylo-epiphyseal dysplasia in two sibs due to a homozygous splicing variant in COL2A1
• Spondyloepiphyseal dysplasia congenita. A cause of lethal neonatal dwarfism
• Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationships
• Sulfate in fetal development
• Suppressing UPR-dependent overactivation of FGFR3 signaling ameliorates SLC26A2-deficient chondrodysplasias
• The type II collagenopathies: a spectrum of chondrodysplasias
• Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan-specific pathogenic variant in SLC26A2
• Type II Collagen Disorders Overview
• Undersulfation of cartilage proteoglycans ex vivo and increased contribution of amino acid sulfur to sulfation in vitro in McAlister dysplasia/atelosteogenesis type 2
• Visceral manifestations of hypochondrogenesis
• Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis