Precocious puberty and anal stenosis in an African patient with Rothmund-Thomson syndrome
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Post-authorisation safety study of burosumab use in paediatric, adolescent and adult patients with X-linked hypophosphataemia: rationale and description
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Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations
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More severe phenotype of early-onset osteoporosis associated with recessive form of LRP5 and combination with DKK1 or WNT3A
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WNT11, a new gene associated with early onset osteoporosis, is required for osteoblastogenesis
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Clinical, Immunological, and Genetic Findings in a Cohort of Patients with the DiGeorge Phenotype without 22q11.2 Deletion
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Secondary peripheral chondrosarcoma arising in solitary osteochondroma: variables influencing prognosis and survival
Righi A et al., Orphanet J Rare Dis. 2022 Feb 22

Osteogenesis Imperfecta: characterization of fractures during pregnancy and post-partum
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Oral health-related quality of life in patients with X-linked hypophosphatemia: a qualitative exploration
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Limb Lengthening With PreciceIntramedullary Lengthening Nails in Children and Adolscents
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Phenotypic Variation in Vietnamese Osteogenesis Imperfecta Patients Sharing a Recessive P3H1 Pathogenic Variant
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Description of four patients with TRIP11 variants expand the clinical spectrum of odontochondroplasia (ODCD) and demonstrate the existence of common variants
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Patient-Reported Outcomes from a Randomized, Active-Controlled, Open-Label, Phase 3 Trial of Burosumab Versus Conventional Therapy in Children with X-Linked Hypophosphatemia
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Lower Limb Deformity and Gait Deviations Among Adolescents and Adults With X-Linked Hypophosphatemia
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Burden of disease and clinical targets in adult patients with X-linked hypophosphatemia. A comprehensive review
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Impact of Early Conventional Treatment on Adult Bone and Joints in a Murine Model of X-Linked Hypophosphatemia
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A Roadmap to Gene Discoveries and Novel Therapies in Monogenic Low and High Bone Mass Disorders
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WNT11, a new gene associated with early-onset osteoporosis, is required for osteoblastogenesis
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Editorial: New Therapeutic Options for Rare Diseases
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Bone Fractures in Children and Young Adults With Type 1 Diabetes: Age Distribution, Fracture Location, and the Role of Glycemic Control
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Mineral and Bone Consequences of High Dose Denosumab Therapy to Treat an Aneurysmal Bone Cyst, a Child Case Report
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How to design a registry for undiagnosed patients in the framework of rare disease diagnosis: suggestions on software, data set and coding system
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Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family
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Patients’ priorities and expectations on an EU registry for rare bone and mineral conditions
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Infectious spondylodiscitis and kyphosis correction in an infant: a case report
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Do Not Simply Pull a Dislocated Finger
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Identification of Compound Heterozygous Variants in LRP4 Demonstrates That a Pathogenic Variant outside the Third β-Propeller Domain Can Cause Sclerosteosis
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Clinical Phenotype and Bone Biopsy Characteristics in a Child with Proteus Syndrome
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Is ghrelin a biomarker of early-onset scoliosis in children with Prader-Willi syndrome?
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Pseudohypoparathyroidism: Focus on Cerebral and Renal Calcifications
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Osteogenesis Imperfecta: characterization of fractures during pregnancy and post-partum
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Identification of the third FGF9 variant in a girl with multiple synostosis-comparison of the genotype:phenotype of FGF9 variants in humans and mice
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Presenting features and molecular genetics of primary hyperparathyroidism in the paediatric population
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Lethal Encephalopathy in an Infant with Hypophosphatasia despite Enzyme Replacement Therapy
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Hyperparathyroidism in Patients With X-Linked Hypophosphatemia
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Development of Enthesopathies and Joint Structural Damage in a Murine Model of X-Linked Hypophosphatemia
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A multi-omics approach expands the mutational spectrum of MAP2K1-related melorheostosis
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Osteoporosis in Premenopausal Women: A Clinical Narrative Review by the ECTS and the IOF
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Vitamin D, and Maternal and Child Health
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10th European Conference on Rare Diseases & Orphan Products (ECRD 2020) # (Rare 2030 Foresight Study: Overview and presentation of four Rare 2030 “What If” scenarios)
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Handgrip strength is a comorbidity marker in systemic necrotizing vasculitides and predicts the risk of fracture and serious adverse events
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Providing high-quality care remotely to patients with rare bone diseases during COVID-19 pandemic
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Ghrelin uses the GHS-R1a/Gi/cAMP pathway and induces differentiation only in mature osteoblasts
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Expression of the type 1 lysophosphatidic acid receptor in osteoblastic cell lineage controls both bone mineralization and osteocyte specification
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Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta
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Treating hypoparathyroidism with recombinant human parathyroid hormone (1-34): long-term safety concerns
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A Large Skull Defect Due to Gorham-Stout Disease: Case Report and Literature Review on Pathogenesis, Diagnosis, and Treatment
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Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia
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An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO
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Management of Endocrine Disease: Unmet therapeutic, educational and scientific needs in parathyroid disorders
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Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)
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The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function
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COL1A1/2 Pathogenic Variants and Phenotype Characteristics in Ukrainian Osteogenesis Imperfecta Patients
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IFITM5 pathogenic variant causes osteogenesis imperfecta V with various phenotype severity in Ukrainian and Vietnamese patients
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De novo and inherited pathogenic variants in collagen-related osteogenesis imperfecta
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Aortic aneurysm/dissection and osteogenesis imperfecta: Four new families and review of the literature
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Prevalence and Clinical Features of Mazabraud Syndrome: A Multicenter European Study
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Elemental formula associated hypophosphataemic rickets
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Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes
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Special considerations for clinical trials in fibrodysplasia ossificans progressiva (FOP)
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Clinical and translational pharmacological aspects of the management of fibrous dysplasia of bone
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Pain in fibrous dysplasia: relationship with anatomical and clinical features
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Denosumab in Patients With Fibrous Dysplasia Previously Treated With Bisphosphonates
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Meeting report from the achondroplasia foramen magnum workshop, Salzburg, Austria 22nd June 2019
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Animal models to explore the effects of glucocorticoids on skeletal growth and structure
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Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort
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Increased Risk of Breast Cancer at a Young Age in Women with Fibrous Dysplasia
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Early clinical observations on the use of imatinib mesylate in FOP: A report of seven cases
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Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature
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Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework
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ClinGen RASopathy Working Group. ClinGen’s RASopathy Expert Panel consensus methods for variant interpretation
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Validation of a novel, rapid, high precision sclerostin assay not confounded by sclerostin fragments
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Noonan syndrome-causing SHP2 mutants impair ERK-dependent chondrocyte differentiation during endochondral bone growth
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Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities
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Phosphate wasting disorders in adults
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Assessment of the genetic and clinical determinants of fracture risk: genome wide association and mendelian randomisation study
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Passive Coping Strategies Are Associated With More Impairment In Quality Of Life In Patients With Fibrous Dysplasia
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Endospanin-2 enhances skeletal muscle energy metabolism and running endurance capacity
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Early postnatal soluble FGFR3 therapy prevents the atypical development of obesity in achondroplasia
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The FOP Connection Registry: Design of an international patient-sponsored registry for Fibrodysplasia Ossificans Progressiva
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Individualized approach to the surgical management of fibrous dysplasia of the proximal femur
Majoor BCJ et al. Orphanet J Rare Dis

Illness Perceptions are Associated with Quality of Life in Patients with Fibrous Dysplasia
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Growth in achondroplasia: Development of height, weight, head circumference, and body mass index in a European cohort
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A 6-Year Follow-Up of Fracture Incidence and Volumetric Bone Mineral Density Development in Girls With Turner Syndrome
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Further delineation of Malan syndrome
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Development of body proportions in achondroplasia: Sitting height, leg length, arm span, and foot length
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Spontaneous Growth and Effect of Early Therapy with Calcitriol and Phosphate in X-linked Hypophosphatemic Rickets
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Aggrecan Mutations in Nonfamilial Short Stature and Short Stature Without Accelerated Skeletal Maturation
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