ERN BOND outcomes
The Role of the European Reference Network for Rare Bone Diseases (ERN BOND) and European Registries for Rare Bone and Mineral Conditions (EuRR-Bone) in the Governance of the Management of Rare Bone and Mineral Diseases
Ana Luisa Priego Zurita et al. Calcif Tissue Int. 2024 July
ERN BOND: The key European network leveraging diagnosis, research, and treatment for rare bone conditions
Casareto, Lorena et al. European journal of medical genetics, 2024 Feb 1;68:104916
Data collection on rare bone and mineral conditions in Europe: The landscape of registries and databases
Priego Zurita A.L. et al. Eur J Med Genet. 2023 Dec, Volume 66, Issue 12
Patients’ priorities and expectations on an EU registry for rare bone and mineral conditions
Javaid MK et al. Orphanet J Rare Dis. 2021;16(1):463
The line between COVID-19 pandemic and rare bone diseases
Sangiorgi L et al. Ir J Med Sci. 2021;190(3):1243-1244
Providing high-quality care remotely to patients with rare bone diseases during COVID-19 pandemic
Brizola E et al. Orphanet J Rare Dis. 2020;15(1):228. Published 2020 Aug 31
Meeting report from the achondroplasia foramen magnum workshop, Salzburg, Austria 22nd June 2019
Cheung, Moira S et al. Bone, 2019 Jul 17, 127:499-502
Special Issues
Rare skeletal disorders: a focus on ERN BOND’s experience
‘European Journal of Medical Genetics’ Special Issues
Genetic and Genomics of Skeletal Disorders
‘Genes’ Journal Special Issues, including rare skeletal diseases sub-topic
Scientific publications on rare bone disorders authored by members
Variants in both the N- or C-terminal domains of IHH lead to defective secretion causing short stature and skeletal defects
Díaz-González, Francisca et al. Eur J Endocrinol. 2024 Jul 2;191(1):38-46.
Project SATURN– a real-world evidence data collaboration with existing European datasets in Osteogenesis Imperfecta to support future therapies
Sangiorgi, L et al. Orphanet J Rare Dis. 2024 May 2;19(1):184.
Tubular phosphate transport: a comparison between different methods of urine sample collection in FGF23-dependent hypophosphatemic syndromes
Arcidiacono, Gaetano Paride et al. Clin Chem Lab Med . 2024 Jan 31;62(6):1126-1132
The diagnosis of hypophosphatasia in children as a multidisciplinary effort: an expert opinion
Baroncelli, G I et al. J Endocrinol Invest. Mar. 2024; vol. 47, 739–747.
The clinical management of children with achondroplasia in Italy: results of clinician and parent/caregiver surveys
Bedeschi, M F et al. J Endocrinol Invest. 2024 Feb;47(2):345-356.
Osteogenesis imperfecta: a cross-sectional study of skeletal and extraskeletal features in a large cohort of Italian patients
Mordenti M. et al., Front. Endocrinol. 2024 Jan 31; 14:1299232
Multicentric Giant Cell Tumor of Bone
C. Errani et al. Orthopedics. 2023 Nov-Dec;46(6):e376-e380
Characterization of three adults and an adolescent with Osteogenesis Imperfecta type VI and a novel founder SERPINF1 variant
Travessa, André M et al. Eur J Med Genet. Nov. 2023; vol. 66, 104867
Cost-effectiveness of bringing a nurse into an Italian genetic day clinic: a before and after study
Mordenti, Marina et al. Nov. 2023; vol. 23,1 1278
Adult height improved over decades in patients with X-linked hypophosphatemia: a cohort study
Boros, Emese et al. Eur J Endocrinol. Oct. 2023; vol. 189: 469-475
XLH Matters 2022: Insights and recommendations to improve outcomes for people living with X-linked hypophosphataemia (XLH)
Seefried, Lothar et al. Orphanet J Rare Dis. Oct. 2023; vol. 18,Suppl 2 333
Is the High Healing Index a Complication of Progressive Long Bone Lengthening? Observations from a Cohort of 178 Children Treated with Circular External Fixation for Lower Limb Length Discrepancy
Depaoli A. et al. Children (Basel). 2023 Sep 22;10(10):1586
Risk of thyroid neoplasms in patients with 22q11.2 deletion and DiGeorge-like syndromes: an insight for follow-up
Sarli, Walter Maria et al. Aug. 2023; vol. 14 1209577
Altered collagen I and premature pulmonary embryonic differentiation in patients with OI type II
Storoni, S et al. Physiol Rep. 2023 Jul;11(13):e15737.
Recombinant growth hormone improves growth and adult height in patients with maternal inactivating GNAS mutations
Ertl, Diana-Alexandra et al. Eur J Endocrinol. 2023 Jul 20;189(1):123-131.
The Prognostic Value of the Serum Level of C-Reactive Protein for Survival of Children with Ewing’s Sarcoma
C. Errani et al. Cancers (Basel). 2023 Mar 3;15(5):1573
What to Expect of Feeding Abilities and Nutritional Aspects in Achondroplasia Patients: A Narrative Review
E. Sforza et al. Genes (Basel). 2023 Jan 12;14(1):199
Precocious puberty and anal stenosis in an African patient with Rothmund-Thomson syndrome
Lorenzo C et al., Am J Med Genet A. 2023 Jan;191(1):280-283
Young XLH Patients-Reported Experience with a Supportive Care Program
Rothenbuhler, Anya et al. Patient Prefer Adherence. 2023 Jun 9:17:1393-1405.
Nosology of genetic skeletal disorders: 2023 revision
Unger, Sheila et al. May 2023; vol. 191 1164-1209
Burosumab for X-linked hypophosphatemia in children and adolescents: Opinion based on early experience in seven European countries
Mughal MZ et al., Front Endocrinol (Lausanne). 2023 Jan 31;13:1034580
Spectrum of Skeletal Imaging Features in Osteopetrosis: Inheritance Pattern and Radiological Associations
Spinnato, Paolo et al. Genes Oct. 2022; vol. 13,11 1965
Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations
Cormier-Daire V et al., Orphanet J Rare Dis. 2022 Jul 27;17(1):293
WNT11, a new gene associated with early onset osteoporosis, is required for osteoblastogenesis
Caetano da Silva C et al., Hum Mol Genet. 2022 May 19;31(10):1622-1634
Skeletal and extraskeletal disorders of biomineralization
Collins MT et al., Nat Rev Endocrinol. 2022 Aug;18(8):473-489
Clinical, Immunological, and Genetic Findings in a Cohort of Patients with the DiGeorge Phenotype without 22q11.2 Deletion
Quintilio Alberio AM et al., J Clin Med. 2022 Apr 5;11(7):2025.
Secondary peripheral chondrosarcoma arising in solitary osteochondroma: variables influencing prognosis and survival
Righi A et al., Orphanet J Rare Dis. 2022 Feb;17(1):74
Limb Lengthening With PreciceIntramedullary Lengthening Nails in Children and Adolscents
Radler C et al. J Pediatr Orthop. 2022 Feb;42(2):e192-e200
Phenotypic Variation in Vietnamese Osteogenesis Imperfecta Patients Sharing a Recessive P3H1 Pathogenic Variant
Zhytnik L et al. Genes (Basel). 2022 Feb;13(3):407
Oral health-related quality of life in patients with X-linked hypophosphatemia: a qualitative exploration
Nguyen C et al., Endocr Connect. 2022 Jan 28;11(1):e210564.
Osteogenesis Imperfecta: characterization of fractures during pregnancy and post-partum
Koumakis E et al., Orphanet J Rare Dis. 2022 Jan 28;17(1):22
More severe phenotype of early-onset osteoporosis associated with recessive form of LRP5 and combination with DKK1 or WNT3A
Caetano da Silva C et al., Mol Genet Genomic Med. 2021;9(6):e1681
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
Bacchetta J et al. Joint Bone Spine. 2021;88(5):105208
Defining a growing and maturing skeleton and its relevance in diseases that affect skeletal growth, such as X-linked hypophosphataemia (XLH)
Beck-Nielsen SS et al. Int J Rare Dis Disord. 2021;4:029
Oral health-related quality of life in X-linked hypophosphatemia and osteogenesis imperfecta
Gjørup H et al. J Oral Rehabil. 2021 Feb;48(2):160-168.
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
Mindler GT et al. Front Endocrinol (Lausanne). 2021 Sep 27;12:754084.
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
Houillier P et al. Arch Pediatr. 2021;28(7):588-593
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
Eckert AJ et al. J Bone Miner Res 2021 Dec;36(12):2371-2380.
Cross-sectional analysis: clinical presentation of children with persistently low ALP levels
Semler O et al. J Pediatr Endocrinol Metab. 2021;34(12):1559-1566
The Genetics of Atypical Femur Fractures-a Systematic Review
Zhou W et al. Curr Osteoporos Rep. 2021;19(2):123-130
Mineral and Bone Consequences of High Dose Denosumab Therapy to Treat an Aneurysmal Bone Cyst, a Child Case Report
Del Sindaco G et al. Front Endocrinol (Lausanne). 2021;12:698963
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
Berger A et al. Orphanet J Rare Dis. 2021;16(1):198
Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family
Siegert S et al. Genes (Basel). 2021;12(11):1648
PTH resistance
Mantovani G et al. Endocrinol. 2021;531:111311
Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly
Elli FM et al. J Bone Miner Res. 2022;37(3):465-474
Vitamin D-Dependent Rickets Type 1A in Two Siblings with a Hypomorphic CYP27B1 Variant Frequent in the African Population
De Brito Chagas J et al. J Pediatr Genet 2021 Online
Infectious spondylodiscitis and kyphosis correction in an infant: a case report
Romano S et al. Ital J Pediatr. 2021;47(1):152
Do Not Simply Pull a Dislocated Finger
Nisticò D et al. J Pediatr. 2021;234:276-277
Six-year-old boy with a slow-onset persistent back pain
Caddeo G et al. Arch Dis Child Educ Pract Ed. 2021;106(5):286-288
A child without kneecaps
Baldo F et al. J Paediatr Child Health. Published online May 7, 2021
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
Pereda A et al. Eur J Endocrinol. 2021;184(2):311-320
Delineation of the clinical and radiological features of Stuve-Wiedemann syndrome childhood survivors, four new cases and review of the literature
Siccha SM et al. Am J Med Genet A. 2021;185(3):856-865
Identification of Compound Heterozygous Variants in LRP4 Demonstrates That a Pathogenic Variant outside the Third β-Propeller Domain Can Cause Sclerosteosis
Huybrechts Y et al. Genes (Basel). 2021;13(1):80
Clinical Phenotype and Bone Biopsy Characteristics in a Child with Proteus Syndrome
Al Kaissi A et al. Calcif Tissue Int. 2021 Nov;109(5):586-595
Is ghrelin a biomarker of early-onset scoliosis in children with Prader-Willi syndrome?
Pacoricona Alfaro DL et al. Orphanet J Rare Dis. 2021;16(1):305
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?
Elli FM et al. Endocrine. 2021;72(3):611-618
The WNT1 G177C mutation specifically affects skeletal integrity in a mouse model of osteogenesis imperfecta type XV
Vollersen N et al. Bone Res 2021 Nov 10;9(1):48.
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
Koumakis E et al. Orphanet J Rare Dis. 2022;17(1):22
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
Pragnère S et al. Acta Biomater. 2021;119:259-267
Low bone mass in Noonan syndrome children correlates with decreased muscle mass and low IGF-1 levels
Delagrange M et al. Bone. 2021;153:116170
Identification of the third FGF9 variant in a girl with multiple synostosis-comparison of the genotype:phenotype of FGF9 variants in humans and mice
Sentchordi-Montané L et al. Clin Genet. 2021;99(2):309-312
Presenting features and molecular genetics of primary hyperparathyroidism in the paediatric population
El Allali Y et al. Eur J Endocrinol. 2021;184(2):347-355
Lethal Encephalopathy in an Infant with Hypophosphatasia despite Enzyme Replacement Therapy
Raimann A et al. Horm Res Paediatr. 2021;94(9-10):390-398
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
Laroche M et al. JBMR Plus. 2021;5(4):e10449
The Treatment of Recurrent Congential clubfoot
Radler C. Foot Ankle Clin. 2021;26(4):619-637
Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagen
Dhooge T et al. Genet Med. 2021;23(12):2378-2385
Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study
Savarirayan R et al. Genet Med. 2021;23(12):2443-2447
Lifetime impact of achondroplasia: Current evidence and perspectives on the natural history
Hoover-Fong J et al. Bone. 2021;146:115872
The International X-Linked Hypophosphataemia (XLH) Registry (NCT03193476): Rationale for and Description of an International, Observational Study
Padidela R et al. Orphanet J Rare Dis. 2020;15(1):172
Hyperparathyroidism in Patients With X-Linked Hypophosphatemia
Lecoq AL et al. J Bone Miner Res. 2020;35(7):1263-1273
Management of X-linked hypophosphatemia in adults
Lecoq AL et al. Metabolism. 2020;103S:154049
Development of Enthesopathies and Joint Structural Damage in a Murine Model of X-Linked Hypophosphatemia
Faraji-Bellée CA et al. Front Cell Dev Biol. 2020;8:854
Epiphyseal Cleft: A Misleading Radiologic Finding
Trevisan M et al. J Pediatr. 2020;226:305-306
Vertebral Fractures in Individuals With Type 2 Diabetes: More Than Skeletal Complications Alone
Koromani F et al. Diabetes Care. 2020;43(1):137-144
A multi-omics approach expands the mutational spectrum of MAP2K1-related melorheostosis
De Ridder R et al. J Clin Endocrinol Metab. 2020;105(8):dgaa306
Osteoporosis in Premenopausal Women: A Clinical Narrative Review by the ECTS and the IOF
Pepe J et al. JJ Clin Endocrinol Metab. 2020;105(8):dgaa306
Fracture Risk and Management of Discontinuation of Denosumab Therapy: A Systematic Review and Position Statement by ECTS
Tsourdi E et al. J Clin Endocrinol Metab. Published online October 26, 2020
Vitamin D, and Maternal and Child Health
Moon RJ et al. Calcif Tissue Int. 2020;106(1):30-46
Vitamin D supplementation: are multivitamins sufficient?
Moon RJ et al. Arch Dis Child. 2020;105(8):791-793
10th European Conference on Rare Diseases & Orphan Products (ECRD 2020) # (Rare 2030 Foresight Study: Overview and presentation of four Rare 2030 “What If” scenarios)
Macek M et al. Orphanet J Rare Dis. 2020;15(Suppl 1):310
Handgrip strength is a comorbidity marker in systemic necrotizing vasculitides and predicts the risk of fracture and serious adverse events
Henriquez S et al. Rheumatology (Oxford). 2020;59(9):2581-2590
Diffuse bone and soft tissue angiomatosis with GNAQ mutation
Gaeta R et al. Pathol Int. 2020;70(7):452-457
Demographic Characteristics, Risk Factors, and Presenting Features of Children with Symptomatic Nutritional Rickets: A French Series
Flot C et al. Horm Res Paediatr. 2020;93(5):304-312
Ghrelin uses the GHS-R1a/Gi/cAMP pathway and induces differentiation only in mature osteoblasts
Barre R et al. Biochem Biophys Rep. 2020;24:100782. Published 2020 Sep 11
Expression of the type 1 lysophosphatidic acid receptor in osteoblastic cell lineage controls both bone mineralization and osteocyte specification
Alioli CA et al. Biochim Biophys Acta Mol Cell Biol Lipids. 2020;1865(8):158715
Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta
Dubail J et al. J Bone Miner Res. 2020;35(8):1470-1480
Burden of Illness in Adults With Hypophosphatasia: Data From the Global Hypophosphatasia Patient Registry
Seefried L et al. J Bone Miner Res. 2020;35(11):2171-2178
Hypophosphatasia: Biological and Clinical Aspects, Avenues for Therapy
Salles JP Clin Biochem Rev. 2020;41(1):13-27
Treating hypoparathyroidism with recombinant human parathyroid hormone (1-34): long-term safety concerns
Goujard C et al. Lancet. 2020;395(10232):1304
A Large Skull Defect Due to Gorham-Stout Disease: Case Report and Literature Review on Pathogenesis, Diagnosis, and Treatment
de Keyser CE et al. Front Endocrinol (Lausanne). 2020;11:37. Published 2020 Feb 5
Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia
Díaz-González F et al. J Med Genet. 2022;59(1):28-38
Continued Beneficial Effects of Burosumab in Adults with X-Linked Hypophosphatemia: Results from a 24-Week Treatment Continuation Period After a 24-Week Double-Blind Placebo-Controlled Period
Portale AA et al. Calcif Tissue Int. 2019;105(3):271-284
An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO
Narayanan DL et al. Am J Med Genet A. 2019;179(9):1709-1717
Management of Endocrine Disease: Unmet therapeutic, educational and scientific needs in parathyroid disorders
Bollerslev J et al. Eur J Endocrinol. 2019;181(3):P1-P19
Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)
Arnaud P et al. Genet Med. 2019;21(9):2015-2024
The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function
Girisha KM et al. Hum Mutat. 2019;40(3):299-309
COL1A1/2 Pathogenic Variants and Phenotype Characteristics in Ukrainian Osteogenesis Imperfecta Patients
Zhytnik L et al. Front Genet. 2019;10:722. Published 2019 Aug 9
IFITM5 pathogenic variant causes osteogenesis imperfecta V with various phenotype severity in Ukrainian and Vietnamese patients
Zhytnik L et al. Hum Genomics. 2019;13(1):25. Published 2019 Jun 3
De novo and inherited pathogenic variants in collagen-related osteogenesis imperfecta
Zhytnik L et al. Mol Genet Genomic Med. 2019;7(3):e559
Aortic aneurysm/dissection and osteogenesis imperfecta: Four new families and review of the literature
Balasubramanian M et al. Bone. 2019;121:191-195
Prevalence and Clinical Features of Mazabraud Syndrome: A Multicenter European Study
Majoor BCJ et al. J Bone Joint Surg Am. 2019;101(2):160-168
Elemental formula associated hypophosphataemic rickets
Uday S et al. Clin Nutr. 2019;38(5):2246-2250
Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes
Pignolo RJ et al. Orphanet J Rare Dis. 2019;14(1):98. Published 2019 May 3
Special considerations for clinical trials in fibrodysplasia ossificans progressiva (FOP)
Hsiao EC et al. Br J Clin Pharmacol. 2019;85(6):1199-1207
Clinical and translational pharmacological aspects of the management of fibrous dysplasia of bone
Rotman M et al. Br J Clin Pharmacol. 2019;85(6):1169-1179
Pain in fibrous dysplasia: relationship with anatomical and clinical features
Majoor BCJ et al. Acta Orthop. 2019;90(4):401-405
Denosumab in Patients With Fibrous Dysplasia Previously Treated With Bisphosphonates
Majoor BCJ et al. J Clin Endocrinol Metab. 2019;104(12):6069-6078
Meeting report from the achondroplasia foramen magnum workshop, Salzburg, Austria 22nd June 2019
Cheung MS et al. Bone. 2019;127:499-502
Animal models to explore the effects of glucocorticoids on skeletal growth and structure
Wood CL et al. J Endocrinol. 2018;236(1):R69-R91
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort
Meester JAN et al. Hum Mutat. 2018;39(9):1246-1261
Increased Risk of Breast Cancer at a Young Age in Women with Fibrous Dysplasia
Majoor BC et al. J Bone Miner Res. 2018;33(1):84-90
Early clinical observations on the use of imatinib mesylate in FOP: A report of seven cases
Kaplan FS et al. Bone. 2018;109:276-280
Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature
Hauer NN et al. Genet Med. 2018;20(6):630-638
Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework
Grant AR et al. Hum Mutat. 2018;39(11):1485-1493
ClinGen RASopathy Working Group. ClinGen’s RASopathy Expert Panel consensus methods for variant interpretation
Gelb BD et al. Genet Med. 2018;20(11):1334-1345
Validation of a novel, rapid, high precision sclerostin assay not confounded by sclerostin fragments
Drake MT et al. Bone. 2018;111:36-43
Noonan syndrome-causing SHP2 mutants impair ERK-dependent chondrocyte differentiation during endochondral bone growth
Tajan M et al. Hum Mol Genet. 2018;27(13):2276-2289
Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities
Boudin E et al. Am J Hum Genet. 2018;103(2):288-295
Phosphate wasting disorders in adults
Marcucci G et al. Osteoporos Int. 2018;29(11):2369-2387
Assessment of the genetic and clinical determinants of fracture risk: genome wide association and mendelian randomisation study
Trajanoska K et al. BMJ. 2018;362:k3225.
Passive Coping Strategies Are Associated With More Impairment In Quality Of Life In Patients With Fibrous Dysplasia
Rotman M et al. Calcif Tissue Int. 2018;103(5):469-475
Endospanin-2 enhances skeletal muscle energy metabolism and running endurance capacity
Lancel S et al. JCI Insight. 2018;3(9):e98081.
Early postnatal soluble FGFR3 therapy prevents the atypical development of obesity in achondroplasia
Saint-Laurent C et al. PLoS One. 2018;13(4):e0195876. Published 2018 Apr 13
The FOP Connection Registry: Design of an international patient-sponsored registry for Fibrodysplasia Ossificans Progressiva
Mantick N et al. Bone. 2018;109:285-290
Individualized approach to the surgical management of fibrous dysplasia of the proximal femur
Majoor BCJ et al. Orphanet J Rare Dis. 2018;13(1):72. Published 2018 May 2
Illness Perceptions are Associated with Quality of Life in Patients with Fibrous Dysplasia
Majoor BCJ et al. Calcif Tissue Int. 2018;102(1):23-31
Growth in achondroplasia: Development of height, weight, head circumference, and body mass index in a European cohort
Merker A et al. Am J Med Genet A. 2018;176(8):1723-1734
A 6-Year Follow-Up of Fracture Incidence and Volumetric Bone Mineral Density Development in Girls With Turner Syndrome
Soucek O et al. J Clin Endocrinol Metab. 2018;103(3):1188-1197
Further delineation of Malan syndrome
Priolo M et al. Hum Mutat. 2018;39(9):1226-1237
Development of body proportions in achondroplasia: Sitting height, leg length, arm span, and foot length
Merker A et al. Am J Med Genet A. 2018;176(9):1819-1829
Spontaneous Growth and Effect of Early Therapy with Calcitriol and Phosphate in X-linked Hypophosphatemic Rickets
Cagnoli M et al. Pediatr Endocrinol Rev. 2017;15(Suppl 1):119-122
Aggrecan Mutations in Nonfamilial Short Stature and Short Stature Without Accelerated Skeletal Maturation
Tatsi C et al. J Endocr Soc. 2017;1(8):1006-1011.