• A Collagen10a1 mutation disrupts cell polarity in a medaka model for metaphyseal chondrodysplasia type Schmid
• A further case of chondrodysplasia with growth failure occurring after hematopoietic stem cell transplantation (HSCT)
• A new test method for biochemical analysis of plasmalogens in dried blood spots and erythrocytes from patients with peroxisomal disorders
• A nonsense mutation in mouse Adamtsl2 causes uterine hypoplasia and an irregular estrous cycle
• A novel variant in BMPR1B causes acromesomelic dysplasia Grebe type in a consanguineous Moroccan family: Expanding the phenotypic and mutational spectrum of acromesomelic dysplasias
• A rare case of SCHMID metaphyseal chondrodysplasia associated with hypothyroidism,growth hormone deficiency and celiac disease: case report
• Activation of the PGC-1α-mediated mitochondrial glutamine metabolism pathway attenuates female offspring osteoarthritis induced by prenatal excessive prednisone
• Altered oral microbiome, but normal human papilloma virus prevalence in cartilage-hair hypoplasia patients
• Approach to Hypercalcemia
• Association of <em>FGF4L1</em> Retrogene Insertion with Prolapsed Gland of the Nictitans (Cherry Eye) in Dogs
• Autophagy activated by GR/miR-421-3p/mTOR pathway as a compensatory mechanism participates in chondrodysplasia induced by prenatal caffeine exposure in male fetal rats
• Carbohydrate sulfotransferases: a review of emerging diagnostic and prognostic applications
• Carbon Dots as Potential Therapeutic Agents for Treating Non-Alcoholic Fatty Liver Disease and Associated Inflammatory Bone Loss
• Cervical corpectomy in a pediatric patient with chondrodysplasia punctata and C5 dysplasia with spinal cord compression: illustrative case
• Chondrodysplasia with Congenital Joint Dislocations, CHST3-Related
• Chondrodysplasia-inducing <em>COL2A1</em> p.Gly1170Ser causes an ER storage defect without associated unfolded protein response in a human cartilage model
• Chondrodysplasia-inducing COL2A1 p.Gly1170Ser causes an ER storage defect without associated unfolded protein response in a human cartilage model
• Circular RNA Gtdc1 Protects Against Offspring Osteoarthritis Induced by Prenatal Prednisone Exposure by Regulating SRSF1-Fn1 Signaling
• Clinical and molecular genetic analysis of a child with Schmid type metaphyseal chondrodysplasia
• Collagen type X expression and chondrocyte hypertrophic differentiation during OA and OS development
• Craniofacial growth and function in achondroplasia: a multimodal 3D study on 15 patients
• CT Scan Data Analysis in Malformations of Cortical Development
• Debilitating Musculoskeletal Disease in Two Free-Ranging Juvenile American Black Bears (<em>Ursus americanus</em>)
• Developmental impairments of craniofacial bone and cartilage in transgenic mice expressing FGF10
• Differential Eye Expression of Xenopus Acyltransferase Gnpat and Its Biochemical Characterization Shed Light on Lipid-Associated Ocular Pathologies
• Effects of prenatal acetaminophen exposure at different stages, doses and courses on articular cartilage of offspring mice
• Embryonic cranial cartilage defects in the Fgfr3^Y367C ^/+ mouse model of achondroplasia
• Empowering Cartilage Restructuring with Biodegradable Magnesium Doped-Silicon Based-Nanoplatforms: Sustained Delivery and Enhanced Differentiation Potential
• Endoscopic endonasal optic nerve decompression in children younger than 2 years old with congenital optic canal stenosis: illustrative cases
• ER procollagen storage defect without coupled unfolded protein response drives precocious arthritis
• Evidence for and against manganese deficiency as causal for congenital joint deficiency disease or death in fetal and neonatal cattle
• Expanding genetic and clinical aspects of Schwartz-Jampel syndrome: A report of two cases with literature review
• Fibular Agenesis and Ball-Like Toes Mimicking Preaxial Polydactyly: Prenatal Presentation of Du Pan Syndrome
• Human Genetics of Atrial Septal Defect
• Hypoparathyroidism and Pseudohypoparathyroidism
• Identification of a novel heterozygous PTH1R variant in a Chinese family with incomplete penetrance
• Identification of kinesin family member (KIF22) homozygous variants in spondyloepimetaphyseal dysplasia with joint laxity, lepdodactylic type and demonstration of proteoglycan biosynthesis impairment
• Identification of potential non-invasive biomarkers in diastrophic dysplasia
• IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans
• Increased Proteolytic Activity of <em>Serratia marcescens</em> Clinical Isolate HU1848 Is Associated with Higher <em>eepR</em> Expression
• Indian patients with CHST3-related chondrodysplasia with congenital joint dislocations
• Inherited fibroblast growth factor 23 excess
• Intriguing link between fetal intracranial hemorrhage and X-linked recessive chondrodysplasia punctata
• Management of Tracheobronchial Stenosis in Chondrodysplasia Punctata
• Multi-omics analysis of a case of congenital microtia reveals aldob and oxidative stress associated with microtia etiology
• Neonatal rhizomelic chondrodysplasia punctata type 2 caused by a novel homozygous variant in the <em>GNPAT</em> gene
• Novel Autopsy Findings in Premature Infant With Beckwith-Wiedemann Syndrome Uniparental Disomy: Multifocal Developmental Dysplastic Chrondromatous Lesions and Cortical Neuronal Heterotopias
• Ocular findings in Jansen metaphyseal chondrodysplasia
• Oral findings in patients with cartilage-hair hypoplasia - cross-sectional observational study
• Peroxisomal Localization of a Truncated HMG-CoA Reductase under Low Cholesterol Conditions
• Pinoresinol diglucoside mitigates dexamethasone-induced osteoporosis and chondrodysplasia in zebrafish
• Predicting the pathogenicity of missense variants based on protein instability to support diagnosis of patients with novel variants of ARSL
• Prenatal and neonatal phenotype of Larsen of La Réunion Island syndrome (B4GALT7- linkeropathy)
• Prenatal and neonatal phenotype of Larsen of La Réunion Island syndrome (B4GALT7-linkeropathy)
• Progress on growth promoting therapies other than growth hormone
• Rare Variant of PTH1R Mutation in an Indian Family
• Refsum Disease
• Schmid Metaphyseal Chondrodysplasia
• Skeletal dysplasias of the fetus and infant: comprehensive review and our experience over a 10-year period
• Statin-Induced Myopathy in a Patient with Schwartz-Jampel Syndrome
• Substantially Delayed Maturation of Growth Plate Chondrocytes in "Humanized" <em>PTH1R</em> Mice with the H223R Mutation of Jansen's Disease
• Targeting FGFR3 signaling and drug repurposing for the treatment of SLC26A2-related chondrodysplasia in mouse model
• The Effect of miR-140-5p with HDAC4 towards Growth and Differentiation Signaling of Chondrocytes in Thiram-Induced Tibial Dyschondroplasia
• The molecular mechanisms of glycosaminoglycan biosynthesis regulating chondrogenesis and endochondral ossification
• The role of semaphorin 3A on chondrogenic differentiation
• Thiram exposure induces tibial dyschondroplasia in broilers via the regulation effect of circ_003084/miR-130c-5p/BMPR1A crosstalk on chondrocyte proliferation and differentiation
• Tibial Damage Caused by T-2 Toxin in Goslings: Bone Dysplasia, Poor Bone Quality, Hindered Chondrocyte Differentiation, and Imbalanced Bone Metabolism
• X-linked genodermatoses from diagnosis to tailored therapy
• Zellweger Spectrum Disorder
• Zellweger Spectrum Disorder
• Zellweger Syndrome
• α7-nAChR/P300/NLRP3-regulated pyroptosis mediated poor articular cartilage quality induced by prenatal nicotine exposure in female offspring rats