• <em>SLC26A2</em> Related Diastrophic Dysplasia in 42-Years Ukrainian Women
• <em>SLC26A2</em>-Associated Diastrophic Dysplasia and rMED-Clinical Features in Affected Finnish Children and Review of the Literature
• 3D printed models can guide safe halo pin placement in patients with diastrophic dysplasia
• A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia
• A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia
• 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 diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype
• A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia
• A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST
• A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases
• Advanced ossification of the carpal bones, and monkey wrench appearance of the femora, features suggestive of a propable mild form of desbeqious dysplasia: a case report and review of the literature
• Alteration of proteoglycan sulfation affects bone growth and remodeling
• Anesthesia for cesarean section with diastrophic dysplasia
• Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene
• Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign
• Autosomal recessive omodysplasia: early prenatal diagnosis and a possible clue to the gene location
• Cervical spine surgery in patients with diastrophic dysplasia: Case report with long-term follow-up
• Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population
• Clinical interpretation of cell-based non-invasive prenatal testing for monogenic disorders including repeat expansion disorders: potentials and pitfalls
• Complications and Revisions After Spine Surgery in Patients With Skeletal Dysplasia: Have We Improved?
• Computational biology insights into genotype-clinical phenotype-protein phenotype relationships between novel SLC26A2 variants identified in inherited skeletal dysplasias
• Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis
• Corrections of lower limb deformities in patients with diastrophic dysplasia
• Deciphering the mutational signature of congenital limb malformations
• Defective proteoglycan sulfation of the growth plate zones causes reduced chondrocyte proliferation via an altered Indian hedgehog signalling
• Diastrophic dysplasia - variant
• Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation
• Diastrophic dysplasia in a seven-year-old girl. Case study
• Diastrophic dysplasia sulfate transporter (SLC26A2) is expressed in the adrenal cortex and regulates aldosterone secretion
• Diastrophic dysplasia: prenatal diagnosis and review of the literature
• Diastrophic dysplasia: prenatal three-dimensional ultrasound findings
• Dysplasias in the Child's Spine
• Dysplastic histogenesis of cartilage growth plate by alteration of sulphation pathway: a transgenic model
• Dysplastic spondylolysis is caused by mutations in the diastrophic dysplasia sulfate transporter gene
• Early degeneration of the knee in diastrophic dysplasia: an MRI study
• Early ultrasonographic diagnosis of diastrophic dysplasia at 12 weeks of gestation in a fetus without previous family history
• Effect of 17 beta-estradiol on diastrophic dysplasia sulfate transporter activity in otosclerotic bone cell cultures and SaOS-2 cells
• Effect of SLC26 anion transporter disease-causing mutations on the stability of the homologous STAS domain of E. coli DauA (YchM)
• Esophageal stenosis in an adult Mexican patient with diastrophic dysplasia: Case report
• Factors associated with health-related quality of life (HRQOL) in adults with short stature skeletal dysplasias
• Fetal MR imaging of atelosteogenesis type II (AO-II)
• Fibronectin matrix assembly is essential for cell condensation during chondrogenesis
• Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells
• Functional interaction of the cystic fibrosis transmembrane conductance regulator with members of the SLC26 family of anion transporters (SLC26A8 and SLC26A9): physiological and pathophysiological relevance
• Gait Pattern and Lower Extremity Alignment in Children With Diastrophic Dysplasia
• Genetic Association and Role of Surgery for the Treatment of Lower Limb Deformities in Diastrophic Dysplasia: A Case Report
• Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family
• Glucocorticoids inhibit diastrophic dysplasia sulfate transporter activity in otosclerosis by interleukin-6
• Health-related quality of life and socioeconomic situation among diastrophic dysplasia patients in Finland
• Hearing loss in skeletal dysplasia patients
• Homozygosity for a DTDST mutation in a child with multiple epiphyseal dysplasia
• Identification of potential non-invasive biomarkers in diastrophic dysplasia
• Improvement of the skeletal phenotype in a mouse model of diastrophic dysplasia after postnatal treatment with N-acetylcysteine
• In vitro proteoglycan sulfation derived from sulfhydryl compounds in sulfate transporter chondrodysplasias
• In vivo contribution of amino acid sulfur to cartilage proteoglycan sulfation
• Increased activity of the diastrophic dysplasia sulfate transporter in otosclerosis and its inhibition by sodium fluoride
• Insights from a transgenic mouse model on the role of SLC26A2 in health and disease
• Management of a Parturient with Diastrophic Dysplasia
• Matrix disruptions, growth, and degradation of cartilage with impaired sulfation
• MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia
• Multiple roles of the SO4(2-)/Cl-/OH- exchanger protein Slc26a2 in chondrocyte functions
• N-acetylcysteine treatment ameliorates the skeletal phenotype of a mouse model of diastrophic dysplasia
• New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene
• Not just cerebral palsy: diastrophic dysplasia presenting as spastic quadriparesis
• Overview of the SLC26 family and associated diseases
• Pathogenetics of the human SLC26 transporters
• Polyethylene Glycol-Poly-Lactide-co-Glycolide Block Copolymer-Based Nanoparticles as a Potential Tool for Off-Label Use of N-Acetylcysteine in the Treatment of Diastrophic Dysplasia
• Positive association of SLC26A2 gene polymorphisms with susceptibility to systemic-onset juvenile idiopathic arthritis
• Prenatal diagnosis of diastrophic dysplasia in the second trimester of pregnancy: Two- and three- dimensional ultrasonographic findings
• Prenatal sonographic diagnosis of skeletal dysplasias
• Prevention of auricular deformity in children with diastrophic dysplasia
• Protein localization of SLC26A2 (DTDST) in rat kidney
• Recessive MED with auricular swelling due to compound heterozygosity Arg279Tpr/Thr512Lys in the SLC26A2 gene
• Recessive multiple epiphyseal dysplasia - Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes
• Recessive omodysplasia: five new cases and review of the literature
• Recommendations for dental management of diastrophic dysplasia: a rare case report
• Regulated transport of sulfate and oxalate by SLC26A2/DTDST
• Requirements for sulfate transport and the diastrophic dysplasia sulfate transporter in fibronectin matrix assembly
• Review of cervical spine anomalies in genetic syndromes
• Second-trimester sonographic diagnosis of diastrophic dysplasia: report of 2 index cases
• Significant traumatic atrophy of the spinal cord in connection with severe cervical vertebral body hypoplasia in a boy with Larsen syndrome: a case report and review of the literature
• Skeletal dysplasias of the fetus and infant: comprehensive review and our experience over a 10-year period
• SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia (rMED)
• SLC26A2 Related Diastrophic Dysplasia in 42-Years Ukrainian Women
• SLC26A2-Associated Diastrophic Dysplasia and rMED-Clinical Features in Affected Finnish Children and Review of the Literature
• SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation
• Solute carrier family 26 member a2 (Slc26a2) protein functions as an electroneutral SOFormula/OH-/Cl- exchanger regulated by extracellular Cl-
• Sulfate in fetal development
• The 3-dimensional configuration of the typical foot and ankle in diastrophic dysplasia
• The 3-dimensional configuration of the typical hip and knee in diastrophic dysplasia
• The diagnosis of art: diastrophic dysplasia and Hephaistos
• The diagnosis of art: diastrophic dysplasia and Hephaistos
• The testis anion transporter 1 (Slc26a8) is required for sperm terminal differentiation and male fertility in the mouse
• The testis anion transporter TAT1 (SLC26A8) physically and functionally interacts with the cystic fibrosis transmembrane conductance regulator channel: a potential role during sperm capacitation
• Total knee arthroplasty in a patient with diastrophic dwarfism
• Total knee arthroplasty in patients with diastrophic dysplasia
• Treatment of spinal deformities in patients with diastrophic dysplasia: a long-term, population based, retrospective outcome study
• Trends in Serum Cytokine Expression in Pediatric Skeletal Dysplasia
• Walking ability in patients with diastrophic dysplasia: a clinical, electroneurophysiological, treadmill, and MRI analysis
• Whole Exome Sequencing with Comprehensive Gene Set Analysis Identified a Biparental-Origin Homozygous c.509G&gt;A Mutation in <em>PPIB</em> Gene Clustered in Two Taiwanese Families Exhibiting Fetal Skeletal Dysplasia during Prenatal Ultras