Disease: Epiphyseal dysplasia- multiple- 2
- A 15 year-old-girl with persistent leg pain diagnosed as a giant cell tumor of the tibial diaphysis: A case report and review of the literature
- A case of congenital multiple epiphyseal dysplasia from the Late Migration Period graveyard in Drnholec (Czech Republic)
- A complex 6p25 rearrangement in a child with 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 distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients
- A Modified 4-in-1 Stanisavljevic Procedure for Treating Obligatory or Congenital Patellar Dislocations in Children: A Surgical Technique
- A mutation in cartilage oligomeric matrix protein (COMP) causes early-onset osteoarthritis in a large kindred study
- A novel COMP mutation in a Chinese family with multiple epiphyseal dysplasia
- A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia
- A novel p.A191D matrilin-3 variant in a Vietnamese family with multiple epiphyseal dysplasia: a case report
- A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype
- Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2
- Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias
- An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs
- An unfolded protein response is the initial cellular response to the expression of mutant matrilin-3 in a mouse model of multiple epiphyseal dysplasia
- Analysis of the cartilage proteome from three different mouse models of genetic skeletal diseases reveals common and discrete disease signatures
- Arthroscopic decompression and notchplasty for long-standing anterior cruciate ligament impingement in a patient with multiple epiphyseal dysplasia: a case report
- Assessment of skeletal age in multiple epiphyseal dysplasia
- Atypical presentation of ACCES syndrome resembling dominant Spondyloepiphyseal dysplasia tarda
- Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene
- Biallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis
- Can Chiari Osteotomy Favorably Influence Long-term Hip Degradation in Multiple Epiphyseal Dysplasia and Pseudoachondroplasia?
- Chop (Ddit3) is essential for D469del-COMP retention and cell death in chondrocytes in an inducible transgenic mouse model of pseudoachondroplasia
- Clinical and genetic characteristics of 9 rare cases with coexistence of dual genetic diagnoses
- Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population
- Clinical diagnosis and WISP3 gene mutation analysis for progressive pseudorheumatoid dysplasia
- Clinical Experience from a Single Tertiary Care Center: Neonatal Diabetes Mellitus with Multiple Epiphyseal Dysplasia-Wolcott-Rallison's Syndrome
- Clinical features and treatment of the hip in multiple epiphyseal dysplasia in childhood
- Comparison of orthopaedic manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations: a case control study
- Coxa vara in chondrodysplasia: prognosis study of 35 hips in 19 children
- Curcumin Reduces Pathological Endoplasmic Reticulum Stress through Increasing Proteolysis of Mutant Matrilin-3
- Does Flexion Varus Osteotomy Improve Radiographic Findings Compared With Patients Treated in a Brace for Late-onset Legg-Calvé-Perthes Disease?
- Double non-contiguous fractures in a patient with spondylo-epiphyseal dysplasia with spinal ankylosis treated with open and percutaneous spinal fixation technique: a case report
- Double-layered patella management in total knee arthroplasty for secondary osteoarthritis: A case report
- Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report
- Dysplasia epiphysealis hemimelica (Trevor disease): a rare developmental disorder of bone mimicking osteochondroma of long bones
- Early-onset diabetes mellitus and neurodevelopmental retardation: the first Greek case of Wolcott-Rallison syndrome
- Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia
- Extensive Arthroscopic Chondroplasty for Cartilage Hyperplasia of the Femoral Condyle Causing Recurrent Knee Locking in a Patient With Multiple Epiphyseal Dysplasia
- Familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4
- FGFR3 induces degradation of BMP type I receptor to regulate skeletal development
- Forearm lengthening by distraction osteogenesis: A report on 5 limbs in 3 cases
- Fourteen-year follow-up of a child with acroscyphodysplasia with emphasis on the need for multidisciplinary management: a case report
- Functional outcomes are preserved in adult acetabular dysplasia with radiographic evidence of lumbosacral spine anomalies: an investigation in hip-spine syndrome
- Functional Outcomes of Hip Arthroscopy for Pediatric and Adolescent Hip Disorders
- Fusion of double-layered patella using a single small fragment partially threaded screw: a case report
- Genetic and molecular aspects of acromelic dysplasia
- Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family
- Guided Growth Improves Coxa Valga and Hip Subluxation in Children With Hereditary Multiple Exostoses
- Hemiepiphyseal stapling for angular deformity correction around the knee joint in children with multiple epiphyseal dysplasia
- Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment
- Hip ontogenesis: how evolution, genes, and load history shape hip morphotype and cartilotype
- Homozygosity for a missense variant in COMP gene associated with severe pseudoachondroplasia
- Identification of recurrent pathogenic alleles using exome sequencing data: Proof-of-concept study of Russian subjects
- Increased classical endoplasmic reticulum stress is sufficient to reduce chondrocyte proliferation rate in the growth plate and decrease bone growth
- Inverse association of general joint hypermobility with hand and knee osteoarthritis and serum cartilage oligomeric matrix protein levels
- Low revision rate after total hip arthroplasty in patients with pediatric hip diseases
- Microscopic and ultrastructural features in Wolcott-Rallison syndrome, a permanent neonatal diabetes mellitus: about two autopsy cases
- MR imaging of normal epiphyseal development and common epiphyseal disorders
- Multiple epiphyseal dysplasia
- Multiple epiphyseal dysplasia in a Jack Russell Terrier
- Multiple epiphyseal dysplasia: skeletal dysplasia presenting as neuromuscular disease
- Multiple occurrence of premature polyarticular osteoarthritis in an early medieval Bohemian cemetery (Prague, Czech Republic)
- Mutations targeting intermodular interfaces or calcium binding destabilize the thrombospondin-2 signature domain
- Novel COL9A3 mutation in a family diagnosed with multiple epiphyseal dysplasia: a case report
- Novel mutations in exon 2 of MATN3 affect residues within the alpha-helices of the A-domain and can result in the intracellular retention of mutant matrilin-3
- Outcomes of complex primary total knee arthroplasties performed with custom cutting guides
- Patients with musculoskeletal dysplasia undergoing total joint arthroplasty are at increased risk of surgical site Infection
- Periacetabular Osteotomy Improves Pain and Function in Patients With Lateral Center-edge Angle Between 18° and 25°, but Are These Hips Really Borderline Dysplastic?
- Polyostotic fibrous dysplasia with epiphyseal involvement in long bones: a case report
- Radiology and morphology of spotted bone: a case report with review of literature
- Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management
- Recessive multiple epiphyseal dysplasia - Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes
- Relative hypoaldosteronism in a patient with Wolcott-Rallison syndrome
- Reliability of lower-limb alignment measurements in patients with multiple epiphyseal dysplasia
- Results of surgical treatment of coxa vara in children: valgus osteotomy with angle blade plate fixation
- Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes
- Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia
- SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia (rMED)
- SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation
- Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation
- Structural and functional characterization of recombinant matrilin-3 A-domain and implications for human genetic bone diseases
- Sulfate in fetal development
- THE 3rd W522X MUTATION IN EIF2AK3 GENE FROM TURKEY: A NEW PATIENT WITH WOLCOTT-RALLISON SYNDROME
- The crystal structure of the signature domain of cartilage oligomeric matrix protein: implications for collagen, glycosaminoglycan and integrin binding
- The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome
- The fate of hips that are conservatively treated in multiple epiphyseal dysplasia
- The favorable outcome of Bernese periacetabular osteotomy for the hip osteoarthritis in multiple epiphyseal dysplasia
- The Femoro-Epiphyseal Acetabular Roof (FEAR) Index: A New Measurement Associated With Instability in Borderline Hip Dysplasia?
- Total Knee Arthroplasty in Patients Who Have Skeletal Dysplasia: A Center's Experience with a Mean 9 Year Follow-Up
- Total Knee Arthroplasty in Patients Who Have Skeletal Dysplasia: A Center's Experience With a Mean 9-Year Follow-Up
- Traumatic Fracture in a patient of Osteopoikilosis with Review of Literature
- Treatment outcomes of hips in patients with epiphyseal dysplasia
- Trevor's Disease: A Literature Review regarding Classification, Treatment, and Prognosis apropos of a Case
- Two novel EIF2AK3 mutations in a Chinese boy with Wolcott-Rallison syndrome
- Two novel mutations in the EIF2AK3 gene in children with Wolcott-Rallison syndrome
- Two novel mutations of <em>COMP</em> in Japanese boys with pseudoachondroplasia
- Wolcott-Rallison syndrome
- Wolcott-Rallison syndrome with 3-hydroxydicarboxylic aciduria and lethal outcome
- Wolcott-Rallison syndrome: a case series of three patients