More severe phenotype of early-onset osteoporosis associated with recessive form of LRP5 and combination with DKK1 or WNT3A
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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
Del Pino M et al. Eur J Med Genet. 2021;64(5):104198

X-linked hypophosphatemia and burosumab: Practical clinical points from the French experience
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Defining a growing and maturing skeleton and its relevance in diseases that affect skeletal growth, such as X-linked hypophosphataemia (XLH)
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Oral health-related quality of life in X-linked hypophosphatemia and osteogenesis imperfecta
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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
Padidela R et al. Calcif Tissue Int. 2021;108(5):622-633

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
Giannini S et al. Osteoporos Int. 2021;32(10):1937-1949

Impact of Early Conventional Treatment on Adult Bone and Joints in a Murine Model of X-Linked Hypophosphatemia
Cauliez A et al. Front Cell Dev Biol. 2021;8:591417

A Roadmap to Gene Discoveries and Novel Therapies in Monogenic Low and High Bone Mass Disorders
Formosa MM et al. Front Cell Dev Biol. 2021;8:591417

WNT11, a new gene associated with early-onset osteoporosis, is required for osteoblastogenesis
Silva CC et al. Hum Mol Genet. 2022;31(10):1622-1634

Biochemical assessment of phosphate homeostasis
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Editorial: New Therapeutic Options for Rare Diseases
Meyer S et al. Front Pediatr. 2022;9:832395

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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Cross-sectional analysis: clinical presentation of children with persistently low ALP levels
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The Genetics of Atypical Femur Fractures-a Systematic Review
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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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Hypercalcemia during pregnancy: management and outcomes for mother and child
Appelman-Dijkstra NM et al.  Endocrine. 2021;71(3):604-610

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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PTH resistance
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Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly
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Vitamin D-Dependent Rickets Type 1A in Two Siblings with a Hypomorphic CYP27B1 Variant Frequent in the African Population
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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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Six-year-old boy with a slow-onset persistent back pain
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A child without kneecaps
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Hypercalcemia during pregnancy: management and outcomes for mother and child
Appelman-Dijkstra NM et al. Endocrine. 2021;71(3):604-610

Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classification in a multicenter large series of 544 molecularly characterized patients
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Delineation of the clinical and radiological features of Stuve-Wiedemann syndrome childhood survivors, four new cases and review of the literature
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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
Mazoni L et al. J Clin Endocrinol Metab. 2021;106(8):e3005-e3020

Pseudohypoparathyroidism, acrodysostosis, progressive osseous heteroplasia: different names for the same spectrum of diseases?
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The WNT1 G177C mutation specifically affects skeletal integrity in a mouse model of osteogenesis imperfecta type XV
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A standard set of outcome measures for the comprehensive assessment of osteogenesis imperfecta
Wouter Nijhuis 1 et al Orphanet J Rare Dis. 2021;16(1):140

Osteogenesis Imperfecta: characterization of fractures during pregnancy and post-partum
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Abnormalities in Tooth Formation after Early Bisphosphonate Treatment in Children with Osteogenesis Imperfecta
Malmgren B et al. Calcif Tissue Int. 2021;109(2):121-131

Human dentin characteristics of patients with osteogenesis imperfecta: insights into collagen-based biomaterials
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Low bone mass in Noonan syndrome children correlates with decreased muscle mass and low IGF-1 levels
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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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Utility of genetic testing for prenatal presentations of hypophosphatasia
Sperelakis-Beedham B et al. Mol Genet Metab. 2021;132(3):198-203

Hypophosphatasia: A Case of Two Patients With Spinal Cord Compression From Increase in Ligamentous Ossifications During Treatment
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The Treatment of Recurrent Congential clubfoot
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Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagen
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Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study
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Lifetime impact of achondroplasia: Current evidence and perspectives on the natural history
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