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
Priego Zurita, A, L. 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
Bone quality in Pycnodysostosis: micropetrosis, locally distorted osteocyte lacuno-canalicular network and heterogenous mineralization pattern in an adult female patient with multiple fractures
Fratzl-Zelmanet, Nadja al. JBMR Plus, 23 Jan. 2025; ziaf015
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia
Haffner, Dieter et al. Nat Rev Nephrol. 2025 Jan 15.
Bone Quality and Mineralization and Effects of Treatment in Osteogenesis Imperfecta
Misof, Barbara et al. Calcif Tissue Int. 2024 Dec;115(6):777-804
Nature-based interventions for individuals with rare skeletal disorders: evaluation of a 5-day sailing program on health-related quality of life
Boarini, Manila et al. Sci Rep. 2024 Nov 14, 26339
Adapting to Adulthood: A Review of Transition Strategies for Osteogenesis Imperfecta
Celli, Luca et al. Calcif Tissue Int. 2024 Nov 13
Adapting to Adulthood: A Review of Transition Strategies for Osteogenesis Imperfecta
Celli, Luca et al. Calcif Tissue Int. 2024 Nov 13;115(6):960–975.
Variants in both the N- or C-terminal domains of IHH lead to defective secretion causing short stature and skeletal defects
Díaz-González, F. 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.
Combined achondroplasia and short stature homeobox-containing (SHOX) gene deletion in a Danish infant
Seiersen, Kasper V et al. Eur J Med Genet . 2024 Feb:67:104894.
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
Errani, C. 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, A. 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, M. 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.