Genotype-phenotype correlations in PSACH/EDM1 patients with COMP gene variants: a comprehensive review of 830 cases.

In Individuals with Osteogenesis Imperfecta, Cephalometric Findings Suggest that Bisphosphonate Therapy May Improve Craniofacial Growth.

Beyond papilledema: optic disc clues reveal coexisting Chiari I malformation and osteopetrosis-a case report and systematic review.

Once-Weekly Navepegritide in Children With Achondroplasia: The APPROACH Randomized Clinical Trial.

Achondroplasia and hypochondroplasia in France: a nationwide epidemiological analysis.

The SAPHO syndrome in diffuse sclerosing osteomyelitis of the mandible: an oral and maxillofacial surgery perspective.

Genetic and Clinical Spectrum of Osteogenesis Imperfecta in an Egyptian Cohort With a High Rate of Lethal Phenotypes.

Perfusion Magnetic Resonance Imaging is the Best Way to Predict the Occurrence of Avascular Necrosis in Slipped Capital Femoral Epiphysis.

Intramedullary telescopic nailing method applied in cases with osteogenesis imperfecta and our results.

C-type natriuretic peptide and collagen X marker are aberrant in skeletal dysplasias.

Bizarre Parosteal Osteochondromatous Proliferation Revisited.

Balancing challenges: exploring postural stability in osteogenesis imperfecta.

Sleep apnea in patients with achondroplasia associated with foramen magnum stenosis.

[An update review of advances in the treatment of achondroplasia].

Wolcott-Rallison syndrome: late-onset diabetes, multiple epiphyseal dysplasia, and acute liver failure - a case report.

Anti-transforming growth factor-β treatment shows increased bone mass and strength in a novel mouse model for osteogenesis imperfecta type I.

Novel LBR pathogenic variants with loss of sterol reductase activity participate in the pathogenesis of skeletal dysplasia via dysregulating canonical Wnt pathway.

Maternal Health and Safety Outcomes of Prenatal Myostatin Inhibition in Osteogenesis Imperfecta Mice.

Monoallelic TYROBP deletion is a novel risk factor for Alzheimer's disease.

Hypertrichosis associated with the use of C-type natriuretic peptide analogue: a case report.

Long-term follow-up of metatropic dysplasia caused by novel mutations in the TRPV4 gene: Case report and literature review.

Hearing loss in Chinese osteogenesis imperfecta patients.

X-linked dominant chondrodysplasia punctata due to novel mutation in EBP gene: A case report.

Genetic landscape and phenotypic spectrum of osteogenesis imperfecta in the Kazakhstani pediatric population.

Atlantoaxial Instability in Collagen Type 2 Skeletal Dysplasias: Surgical Indications and Recommendations.

Functional Change in a Child With Achondroplasia Following 12 Months Treatment With Vosoritide-A Case Report.

COL1A1 and COL1A2 Gene Variants Causing Osteogenesis Imperfecta in a Major Referral Center of India.

Trichorhinophalangeal syndrome type 1 (TRPS1) in breast pathology: diagnostic utility and pitfalls.

Metabolomics study of osteopetrosis caused by CLCN7 mutation reveals novel pathway and potential biomarkers.

Early life functional transitions impact craniofacial morphology in osteogenesis imperfecta.

Clinical Features of Seven COL2A1 Variations in Chinese Children With Type II Collagen Disorders.

Bizarre parosteal osteochondromatous proliferation in the jaws: a systematic review.

Mastication and electrical activation in the masseter and anterior temporalis muscles of children and adolescents with osteogenesis imperfecta.

Approach to the Patient with Achondroplasia-New Considerations for Diagnosis, Management, and Treatment.

Deficiency of EXT1 and FGFR3 genes promotes chondrocyte differentiation, leading to the induction of osteochondroma formation.

Otologic Manifestations in Patients with Achondroplasia: A Multicenter Study.

Foetal achondroplasia: Prenatal diagnosis, outcome and perspectives.

COL9A1-related disorder with pectus carinatum, without epiphyseal dysplasia: case report and review of literature.

Lung function in adult patients with osteogenesis imperfecta: a cohort study.

Clinical Challenges in Diagnosing Primordial Dwarfism: Insights from a MOPD II Case Study.

Effects of shear stress on mesenchymal stem cells of patients with osteogenesis imperfecta.

Bmpr1aa modulates the severity of the skeletal phenotype in an fkbp10-deficient Bruck syndrome zebrafish model.

Genetics and Bone Mineral Density Predict the Fractures in Adults With Osteogenesis Imperfecta: A Prospective Study.

Epidemiology of bone tumors in children and adolescents: a retrospective study of 266 patients in the south of Tunisia.

DYNC2H1 splicing variants causing severe prenatal short-rib polydactyly syndrome and postnatal orofaciodigital syndrome.

A Single Multiplex PCR and Single-Nucleotide Extension Assay for the Detection of Common Thanatophoric Dysplasia I and II Mutations.

Oral Problems in Brazilian Individuals with Rare Genetic Diseases That Affect Skeletal Development.

Persistent growth-promoting effects of vosoritide in children with achondroplasia are accompanied by improvements in physical and social aspects of health-related quality of life.

Risk of Pulmonary Diseases in Osteogenesis Imperfecta in Denmark: A Register-Based Cohort Study.

Evaluation of the Nordic Musculoskeletal Questionnaire for Measuring Prevalence and the Consequence of Pain in a Danish Adult OI Population: A Pilot Study.

Characterization of hearing loss in pediatric patients with osteogenesis imperfecta.

Genotype and Phenotype Correlation of Patients with Osteogenesis Imperfecta.

Efficacy of intraoperative use of tranexamic acid in reducing blood loss from telescoping nail application in osteogenesis imperfecta. A randomized controlled trial.

Effectiveness of whole exome sequencing analyses in the molecular diagnosis of osteogenesis imperfecta.

[Analysis of genetic variants and molecular pathogenesis in a Chinese pedigree affected with Multiple epiphyseal dysplasia].

Meier-Gorlin syndrome type 7: a rare cause of primordial dwarfism: two new cases and literature review.

[Examination of Optimal Frequency Processing in X-ray Images for Occult Femoral Neck Fractures].

Molecular Genetic Diagnosis with Targeted Next Generation Sequencing in a Cohort of Turkish Osteogenesis Imperfecta Patients and their Genotype-phenotype Correlation.

A Retrospective Study of the Presentation, Diagnosis, Management, and Outcomes of 27 Patients with Osteogenesis Imperfecta at a Single Center in Türkiye.

Total Knee Arthroplasty in Patients Who Have Skeletal Dysplasia: A Center's Experience With a Mean 9-Year Follow-Up.

A recurrent de novo missense mutation in COL1A1 causes osteogenesis imperfecta type II and preterm delivery in Normande cattle.

A case of osteogenesis imperfecta diagnosed after subchondral insufficiency fracture of bilateral femoral heads.

Three-dimensional evaluation of dental characteristics in patients with Cleidocranial dysplasia.

Changes in serum bone turnover markers and bone mineral density Z-score in children with osteogenesis imperfecta after zoledronic acid treatment.

Long-term Outcomes of Surgically Treated Congenital Dislocation of the Knee.

Surgery for Spinal Stenosis in Achondroplasia: Causes of Reoperation and Reduction of Risks.

Promising horizons in achondroplasia along with the development of new drugs.

Association between treatment type and therapeutic response according to clinical form of SAPHO syndrome in adults from a multicentre retrospective cohort study.

Bone microarchitecture and strength assessment in adults with osteogenesis imperfecta using HR-pQCT: normative comparison and challenges.

Patient and Caregiver Impressions of the Impact of Madelung Deformity: A CoULD Registry Analysis.

Short-term effects of Mediterranean diet on nutritional status in adults affected by Osteogenesis Imperfecta: a pilot study.

Intraoperative Epiphyseal Perfusion Monitoring Does Not Reliably Predict Osteonecrosis Following Treatment of Unstable SCFE.

Surgical treatment of osteogenesis imperfecta: a summary of the incidence of femoral implant-related complications in children with Sillence type I, III and IV.

Bleeding assessment in a large cohort of patients with Osteogenesis Imperfecta.

Characteristics of femoral neck fractures in osteogenesis imperfecta: Series of four-teen consecutive hips in twelve patients.

Early insights into the role of Exoc6B associated with spondyloepimetaphyseal dysplasia with joint laxity type 3 in primary ciliogenesis and chondrogenic differentiation in vitro.

Effect of Roflumilast, a Selective PDE4 Inhibitor, on Bone Phenotypes in ADO2 Mice.

Review of published 467 achondroplasia patients: clinical and mutational spectrum.

Genetic Analysis, Phenotypic Spectrum and Functional Study of Rare Osteogenesis Imperfecta Caused by CRTAP Variants.

The incidence and management of slipped capital femoral epiphysis: a population-based study.

Efficacy and Safety of Denosumab vs Zoledronic Acid in OI Adults: A Prospective, Open-Label, Randomized Study.

[Features and results of surgical rehabilitation of hearing loss in osteogenesis imperfecta].

Trends in Serum Cytokine Expression in Pediatric Skeletal Dysplasia.

[Analysis of diet structure of Kashin-beck disease area in Chamdo-Lhorong of Tibet in 2021].

The Effects of Residual Femoral Deformity on Computed Contact Mechanics in Patients Treated With In Situ Fixation for Slipped Capital Femoral Epiphysis.

Genetic basis of osteogenesis imperfecta from a single tertiary centre in South Africa.

Vosoritide therapy in children with achondroplasia aged 3-59 months: a multinational, randomised, double-blind, placebo-controlled, phase 2 trial.

Distinct ClC-6 and ClC-7 Cl- sensitivities provide insight into ClC-7's role in lysosomal Cl- homeostasis.

Expanding the genetic and clinical spectrum of osteogenesis imperfecta: identification of novel rare pathogenic variants in type I collagen-encoding genes.

Genetic testing and diagnostic strategies of fetal skeletal dysplasia: a preliminary study in Wuhan, China.

A case-control study of early-stage radiological markers of endothelial dysfunction and cardiovascular findings in patients with osteogenesis imperfecta: genotype-phenotype correlations.

Growth Arrest in Type IV Osteogenesis Imperfecta After Fassier-Duval Rod Insertion Treated by a Lengthening Magnetic Intramedullary Nail: A Case Report.

Temporal trends in surgical implants for in situ fixation of stable slipped capital femoral epiphysis.

Novel HSPG2 Gene Mutation Causing Schwartz-Jampel Syndrome in a Moroccan Family: A Literature Review.

Embryonic cranial cartilage defects in the Fgfr3Y367C /+ mouse model of achondroplasia.

A new test method for biochemical analysis of plasmalogens in dried blood spots and erythrocytes from patients with peroxisomal disorders.

Scoliosis in osteogenesis imperfecta: identifying the genetic and non-genetic factors affecting severity and progression from longitudinal data of 290 patients.

LRP5 high bone mass (Worth-type autosomal dominant endosteal hyperostosis): case report and historical review of the literature.

Cranio-cervical abnormalities in moderate-to-severe osteogenesis imperfecta - Genotypic and phenotypic determinants.

Exploration of charge transfer analysis and photovoltaics properties of A-D-A type non-fullerene phenazine based molecules to enhance the organic solar cell properties.

Adult Osteopetrosis Type 2.

Osteogenesis imperfecta type VIII: highlighting the need for genetic testing.

Modified ulnar lengthening for correction of the Masada type 2 forearm deformity in hereditary multiple exostosis.

Molecular Mechanisms of Craniofacial and Dental Abnormalities in Osteopetrosis.

[Clinical and molecular genetic analysis of a child with Schmid type metaphyseal chondrodysplasia].

[Analysis of COL1A1 and COL1A2 gene variants in two fetuses with osteogenesis imperfecta].

Trichorhinophalangeal syndrome type 1 (TRPS1) expression in male breast carcinoma.

Unravelling the pathogenesis of foramen magnum stenosis in patients with severe achondroplasia: a CT-based comparison with age-matched controls and FGFR3 craniosynostosis syndromes.

RNA Sequencing of Urine-Derived Cells for the Characterization and Diagnosis of Osteogenesis Imperfecta.

TAPT1-at the crossroads of extracellular matrix and signaling in Osteogenesis imperfecta.

Genotype-phenotype relationship and comparison between eastern and western patients with osteogenesis imperfecta.

Unravelling the Relacatib activity against the CTSK proteins causing pycnodysostosis: a molecular docking and dynamics approach.

Case Report: short stature, kidney anomalies, and cerebral aneurysms in a novel homozygous mutation in the PCNT gene associated with microcephalic osteodysplastic primordial dwarfism type II.

Cyclic intravenous pamidronate for an infant with osteogenesis imperfecta type II.

Analysis of N-glycosylation protein of Kashin-Beck disease chondrocytes derived from induced pluripotent stem cells based on label-free strategies with LC-MS/MS.

CHST3-related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum.

Bone allografting: an original method for biological osteosynthesis and bone reinforcement in children with osteogenesis imperfecta.

Intracranial aneurysm as a possible complication of osteogenesis imperfecta: a case series and literature review.

Keratoconus tomographic indices in osteogenesis imperfecta.

Multiple epiphyseal dysplasia tip 5: Case report a rare skeletal dysplasıa presenting with repetitive joint pain in children.

Route of delivery does not impact postnatal surgical morbidity in pregnancies affected by fetal achondroplasia.

Case Report: A Novel Homozygous Variant of the SERPINF1 Gene in Rare Osteogenesis Imperfecta Type VI.

[Clinical and genetic characteristics of 9 rare cases with coexistence of dual genetic diagnoses].

Genetic disruption of Ano5 leads to impaired osteoclastogenesis for gnathodiaphyseal dysplasia.

Novel mutation in LRP5 gene cause rare osteosclerosis: cases studies and literature review.

Clinical value of RANKL, OPG, IL-6 and sclerostin as biomarkers for fibrous dysplasia/McCune-Albright syndrome.

Expanding the Phenotypic Spectrum of Kenny-Caffey Syndrome.

Mitigating the Denosumab-Induced Rebound Phenomenon with Alternating Short- and Long-Acting Anti-resorptive Therapy in a Young Boy with Severe OI Type VI.

Expanding the clinical and molecular features of trichorhino- phalangeal syndrome with a novel variant.

Early Results of 3-Dimensional Planning and Customized Cutting Guides for the Treatment of Severe Madelung Deformity.

Zebrafish Tric-b is required for skeletal development and bone cells differentiation.

Growth patterns and outcomes of growth hormone therapy in patients with acrodysostosis.

Assessment of body fat mass, anthropometric measurement and cardiometabolic risk in children and adolescents with achondroplasia and hypochondroplasia.

Dental Implants in Patients with Osteogenesis Imperfecta - Clinical and Radiographic Outcome in Six Patients.

Genetic analysis of osteogenesis imperfecta in a large Brazilian cohort.

Approach to the Patient: Pharmacological Therapies for Fracture Risk Reduction in Adults With Osteogenesis Imperfecta.

Genotypic and Phenotypic Spectrum and Pathogenesis of WNT1 Variants in a Large Cohort of Patients With OI/Osteoporosis.

CLCN7, a gene shared by autosomal recessive and autosomal dominant osteopetrosis.

Characterization of a novel deep-intronic variant in DYNC2H1 identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III.

Clinical Manifestations and Outcomes of 20 Korean Hypochondroplasia Patients with the FGFR3 N540K variant.

Surgical outcomes for spinal deformity in osteogenesis imperfecta.

Cardiovascular abnormalities and its correlation with genotypes of children with osteogenesis imperfecta.

Pediatric Hip Disease Increases the Risk for Opioid Use in Adulthood: Long-term Burden of Pain and Depression.

Two Year Randomized Prospective Comparison of Ahmed Valve Versus Baerveldt Implant in Vitrectomized Eyes.

A Novel lncRNA Mediates the Delayed Tooth Eruption of Cleidocranial Dysplasia.

Clinical and Radiographic Features of the Atlantoaxial Dislocation Associated With Kashin-Beck Disease.

Bone marrow transplantation as a therapy for autosomal dominant osteopetrosis type 2 in mice.

Comparing Clinical and Genetic Characteristics of De Novo and Inherited COL1A1/COL1A2 Variants in a Large Chinese Cohort of Osteogenesis Imperfecta.

Anterior cruciate ligament rupture in a patient with Albers-Schonberg disease.

Prevention of Blindness in Stickler Syndrome.

Autosomal Recessive Stickler Syndrome.

[Ultrasonographic manifestation and genetic analysis of a fetus with Stickler syndrome].

Pediatric patient with a bilateral Salter-Harris II fracture and slipped capital femoral epiphysis secondary to autosomal recessive osteopetrosis.

Genetic testing in four Indian families with suspected Stickler syndrome.

Metformin alleviates osteoarthritis in mice by inhibiting chondrocyte ferroptosis and improving subchondral osteosclerosis and angiogenesis.

The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.

Comprehensive literature review on the prevalence of comorbid conditions in patients with achondroplasia.

A registry of achondroplasia: a 6-year experience from the Czechia and Slovak Republic.

Mutations in COL1A1 and COL27A1 Associated with a Pectus Excavatum Phenotype in 2 Siblings with Osteogenesis Imperfecta.

Diagnostic distribution and postnatal evaluation of prenatally detected short femur: A single center experience.

[Clinical features and FGFR3 mutations of children with achondroplasia].

Phase 1 safety, tolerability, pharmacokinetics and pharmacodynamics results of a long-acting C-type natriuretic peptide prodrug, TransCon CNP.

Severe foveal hypoplasia and macular degeneration in Stickler syndrome caused by missense mutation in COL2A1 gene.

Novel NPR2 Gene Mutations Affect Chondrocytes Function via ER Stress in Short Stature.

Effects of zoledronic acid therapy in fibrous dysplasia of bone: a single-center experience.

Comprehensive risk assessments and anesthetic management for children with osteogenesis imperfecta: A retrospective review of 252 orthopedic procedures over 5 years.

Dominant osteogenesis imperfecta with low bone turnover caused by a heterozygous SP7 variant.

When Is an Isolated Olecranon Fracture Pathognomonic for Osteogenesis Imperfecta?

[Clinicopathological analysis of 105 patients with fibrous dysplasia of cranio-maxillofacial region].

Do Patient Demographics and Socioeconomic Status Influence Severity and Time to Diagnosis in Children With Stable Slipped Capital Femoral Epiphysis?

Impact of Patient and Tumor Characteristics on Range of Motion and Recurrence Following Treatment of Enchondromas of the Hand.

Targeting TGF-β for treatment of osteogenesis imperfecta.

Standardizing genetic and metabolic consults for non-accidental trauma at a large pediatric academic center.

4PBA reduces growth deficiency in osteogenesis imperfecta by enhancing transition of hypertrophic chondrocytes to osteoblasts.

[Analysis of COL1A1 gene variation and clinical prevention and treatment in patients with Van der Hoeve syndrome].

A single-centre study of genetic mutations, audiology, echocardiogram and pulmonary function in Saudi children with osteogenesis imperfecta.

Animal model detects early pathologic changes of Charcot neuropathic arthropathy.

Muscle-bone properties after prolonged voluntary wheel running in a mouse model of dominant severe osteogenesis imperfecta.

Tibial Sliding Elastic Nailing Technique in Moderate-to-Severe Osteogenesis Imperfecta: Long-term Outcomes.

Clinical, Biochemical, Radiological, Genetic and Therapeutic Analysis of Patients with COMP Gene Variants.

Multiomics landscape of the autosomal dominant osteopetrosis type II disease-specific induced pluripotent stem cells.

SLC4A2 Deficiency Causes a New Type of Osteopetrosis.

Development of individuals with thanatophoric dysplasia surviving beyond infancy.

Enhanced Extracellular Matrix Degradation in Growth Plate Contributes to Manganese Deficiency-Induced Tibial Dyschondroplasia in Broiler Chicks.

Generation of a heterozygous COL2A1 (p.G1113C) hypochondrogenesis mutation iPSC line, MCRIi019-A-7, using CRISPR/Cas9 gene editing.

Osteogenesis Imperfecta: The Impact of Genotype and Clinical Phenotype on Adiposity and Resting Energy Expenditure.

Osteogenesis Imperfecta and hearing loss in the paediatric population.

Chloroquine increases osteoclast activity in vitro but does not improve the osteopetrotic bone phenotype of ADO2 mice.

Craniocervical abnormalities in osteogenesis imperfecta type V.

A novel homozygous mutation of the PCNT gene in a Chinese patient with microcephalic osteodysplastic primordial dwarfism type II.

Tricorhinophalangeal Syndrome type 1: a novel variant and Perthes-like hip changes as first manifestation.

A Novel Intronic Splicing Mutation in the EXT2 Gene of a Chinese Family with Multiple Osteochondroma.

Neonatal Schwartz-Jampel syndrome type II: a rare case of peripheral origin of neonatal hypertonia.

Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature.

Long-Term Follow-Up Outcomes of 19 Patients with Osteogenesis Imperfecta Type XI and Bruck Syndrome Type I Caused by FKBP10 Variants.

Real-time ultrasound-guided epidural anesthesia for cesarean section in a parturient with achondroplasia.

Diagnostic utility of next-generation sequence genetic panel testing in children presenting with a clinically significant fracture history.

Patterns of femoral neck fracture and its treatment methods in patients with osteogenesis imperfecta.

A GDF5 frameshift mutation segregating with Grebe type chondrodysplasia and brachydactyly type C+ in a 6 generations family: Clinical report and mini review.

Fibrous Dysplasia at Unusual Anatomic Sites: A Series of 86 Cases With Emphasis on Histologic Patterns.