{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T15:56:46Z","timestamp":1791475006005,"version":"4.3.4"},"reference-count":56,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2020,3,12]],"date-time":"2020-03-12T00:00:00Z","timestamp":1583971200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2020,3,12]],"date-time":"2020-03-12T00:00:00Z","timestamp":1583971200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Curr Osteoporos Rep"],"published-print":{"date-parts":[[2020,4]]},"DOI":"10.1007\/s11914-020-00568-5","type":"journal-article","created":{"date-parts":[[2020,3,12]],"date-time":"2020-03-12T03:03:12Z","timestamp":1583982192000},"page":"95-102","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":33,"title":["Bone Disease in Patients with Ehlers\u2013Danlos Syndromes"],"prefix":"10.1007","volume":"18","author":[{"given":"Shuaa","family":"Basalom","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Rauch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,3,12]]},"reference":[{"key":"568_CR1","doi-asserted-by":"crossref","unstructured":"\u2022 Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017;175:8\u201326. The most recent international classification of Ehlers-Danlos syndromes.","DOI":"10.1002\/ajmg.c.31547"},{"key":"568_CR2","doi-asserted-by":"crossref","first-page":"l4966","DOI":"10.1136\/bmj.l4966","volume":"366","author":"N Ghali","year":"2019","unstructured":"Ghali N, Sobey G, Burrows N. Ehlers-Danlos syndromes. BMJ. 2019;366:l4966.","journal-title":"BMJ"},{"key":"568_CR3","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1002\/ajmg.c.31538","volume":"175","author":"B Tinkle","year":"2017","unstructured":"Tinkle B, Castori M, Berglund B, Cohen H, Grahame R, Kazkaz H, et al. Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome type III and Ehlers-Danlos syndrome hypermobility type): clinical description and natural history. Am J Med Genet C Semin Med Genet. 2017;175:48\u201369.","journal-title":"Am J Med Genet C Semin Med Genet."},{"key":"568_CR4","doi-asserted-by":"crossref","first-page":"2819","DOI":"10.1002\/art.30435","volume":"63","author":"J Clinch","year":"2011","unstructured":"Clinch J, Deere K, Sayers A, Palmer S, Riddoch C, Tobias JH, et al. Epidemiology of generalized joint laxity (hypermobility) in fourteen-year-old children from the UK: a population-based evaluation. Arthritis Rheum. 2011;63:2819\u201327.","journal-title":"Arthritis Rheum"},{"key":"568_CR5","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1016\/j.jpeds.2016.09.060","volume":"181","author":"SL Morris","year":"2017","unstructured":"Morris SL, O'Sullivan PB, Murray KJ, Bear N, Hands B, Smith AJ. Hypermobility and musculoskeletal pain in adolescents. J Pediatr. 2017;181:213\u201321 e1.","journal-title":"J Pediatr"},{"key":"568_CR6","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1002\/ajmg.c.31548","volume":"175","author":"JM Bowen","year":"2017","unstructured":"Bowen JM, Sobey GJ, Burrows NP, Colombi M, Lavallee ME, Malfait F, et al. Ehlers-Danlos syndrome, classical type. Am J Med Genet C Semin Med Genet. 2017;175:27\u201339.","journal-title":"Am J Med Genet C Semin Med Genet."},{"key":"568_CR7","doi-asserted-by":"crossref","unstructured":"\u2022 Brady AF, Demirdas S, Fournel-Gigleux S, Ghali N, Giunta C, Kapferer-Seebacher I, et al. The Ehlers-Danlos syndromes, rare types. Am J Med Genet C Semin Med Genet. 2017;175:70\u2013115. This is an extensive review of the rare types of Ehlers-Danslos syndrome based on the 2017 international classification. It estimates the prevalence of each clinical feature, including bone findings, based on the all the reported cases in the litrature.","DOI":"10.1002\/ajmg.c.31550"},{"key":"568_CR8","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1002\/ajmg.c.31553","volume":"175","author":"PH Byers","year":"2017","unstructured":"Byers PH, Belmont J, Black J, De Backer J, Frank M, Jeunemaitre X, et al. Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome. Am J Med Genet C Semin Med Genet. 2017;175:40\u20137.","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"568_CR9","doi-asserted-by":"crossref","first-page":"e3642","DOI":"10.1371\/journal.pone.0003642","volume":"3","author":"T Fukada","year":"2008","unstructured":"Fukada T, Civic N, Furuichi T, Shimoda S, Mishima K, Higashiyama H, et al. The zinc transporter SLC39A13\/ZIP13 is required for connective tissue development; its involvement in BMP\/TGF-beta signaling pathways. PLoS One. 2008;3:e3642.","journal-title":"PLoS One"},{"key":"568_CR10","doi-asserted-by":"crossref","first-page":"e1002711","DOI":"10.1371\/journal.pgen.1002711","volume":"8","author":"GG Galli","year":"2012","unstructured":"Galli GG, Honnens de Lichtenberg K, Carrara M, Hans W, Wuelling M, Mentz B, et al. Prdm5 regulates collagen gene transcription by association with RNA polymerase II in developing bone. PLoS Genet. 2012;8:e1002711.","journal-title":"PLoS Genet"},{"key":"568_CR11","doi-asserted-by":"crossref","first-page":"4668","DOI":"10.1096\/fj.14-249656","volume":"28","author":"RH Nielsen","year":"2014","unstructured":"Nielsen RH, Couppe C, Jensen JK, Olsen MR, Heinemeier KM, Malfait F, et al. Low tendon stiffness and abnormal ultrastructure distinguish classic Ehlers-Danlos syndrome from benign joint hypermobility syndrome in patients. FASEB J. 2014;28:4668\u201376.","journal-title":"FASEB J"},{"key":"568_CR12","doi-asserted-by":"crossref","first-page":"766","DOI":"10.1002\/acr.21592","volume":"64","author":"L Rombaut","year":"2012","unstructured":"Rombaut L, Malfait F, De Wandele I, Mahieu N, Thijs Y, Segers P, et al. Muscle-tendon tissue properties in the hypermobility type of Ehlers-Danlos syndrome. Arthritis Care Res (Hoboken). 2012;64:766\u201372.","journal-title":"Arthritis Care Res (Hoboken)"},{"key":"568_CR13","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1152\/japplphysiol.01044.2016","volume":"123","author":"RH Nygaard","year":"2017","unstructured":"Nygaard RH, Jensen JK, Voermans NC, Heinemeier KM, Schjerling P, Holm L, et al. Skeletal muscle morphology, protein synthesis, and gene expression in Ehlers-Danlos syndrome. J Appl Physiol (1985). 2017;123:482\u20138.","journal-title":"J Appl Physiol (1985)"},{"key":"568_CR14","doi-asserted-by":"crossref","first-page":"2073","DOI":"10.1093\/rheumatology\/kex148","volume":"56","author":"MC Scheper","year":"2017","unstructured":"Scheper MC, Nicholson LL, Adams RD, Tofts L, Pacey V. The natural history of children with joint hypermobility syndrome and Ehlers-Danlos hypermobility type: a longitudinal cohort study. Rheumatology (Oxford). 2017;56:2073\u201383.","journal-title":"Rheumatology (Oxford)"},{"key":"568_CR15","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1080\/09638288.2017.1398278","volume":"41","author":"JV Simmonds","year":"2019","unstructured":"Simmonds JV, Herbland A, Hakim A, Ninis N, Lever W, Aziz Q, et al. Exercise beliefs and behaviours of individuals with joint hypermobility syndrome\/Ehlers-Danlos syndrome\u2014hypermobility type. Disabil Rehabil. 2019;41:445\u201355.","journal-title":"Disabil Rehabil"},{"key":"568_CR16","doi-asserted-by":"publisher","unstructured":"Robbins SM, Cossette-Levasseur M, Kikuchi K, Sarjeant J, Shiu YG, Azar C, et al. Neuromuscular activation differences during gait in patients with Ehlers-Danlos syndrome and healthy adults. Arthritis Care Res (Hoboken). 2019. https:\/\/doi.org\/10.1002\/acr.24067.","DOI":"10.1002\/acr.24067"},{"key":"568_CR17","first-page":"633","volume":"15","author":"D Ma","year":"2004","unstructured":"Ma D, Morley R, Jones G. Risk-taking, coordination and upper limb fractures in children: a population based case-control study. Osteoporos Int. 2004;15:633\u20138.","journal-title":"Osteoporos Int"},{"key":"568_CR18","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1519\/JPT.0000000000000099","volume":"40","author":"MM Lusardi","year":"2017","unstructured":"Lusardi MM, Fritz S, Middleton A, Allison L, Wingood M, Phillips E, et al. Determining risk of falls in community dwelling older adults: a systematic review and meta-analysis using posttest probability. J Geriatr Phys Ther. 2017;40:1\u201336.","journal-title":"J Geriatr Phys Ther"},{"key":"568_CR19","first-page":"799","volume":"30","author":"AL Dolan","year":"2003","unstructured":"Dolan AL, Hart DJ, Doyle DV, Grahame R, Spector TD. The relationship of joint hypermobility, bone mineral density, and osteoarthritis in the general population: the Chingford study. J Rheumatol. 2003;30:799\u2013803.","journal-title":"J Rheumatol"},{"key":"568_CR20","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1007\/s10067-005-0103-3","volume":"25","author":"S Gulbahar","year":"2006","unstructured":"Gulbahar S, Sahin E, Baydar M, Bircan C, Kizil R, Manisali M, et al. Hypermobility syndrome increases the risk for low bone mass. Clin Rheumatol. 2006;25:511\u20134.","journal-title":"Clin Rheumatol"},{"key":"568_CR21","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1002\/jbmr.3583","volume":"34","author":"JA McVeigh","year":"2019","unstructured":"McVeigh JA, Howie EK, Zhu K, Walsh JP, Straker L. Organized sport participation from childhood to adolescence is associated with bone mass in young adults from the Raine study. J Bone Miner Res. 2019;34:67\u201374.","journal-title":"J Bone Miner Res"},{"key":"568_CR22","doi-asserted-by":"crossref","first-page":"1749","DOI":"10.1249\/MSS.0b013e31828f882f","volume":"45","author":"A Ireland","year":"2013","unstructured":"Ireland A, Maden-Wilkinson T, McPhee J, Cooke K, Narici M, Degens H, et al. Upper limb muscle-bone asymmetries and bone adaptation in elite youth tennis players. Med Sci Sports Exerc. 2013;45:1749\u201358.","journal-title":"Med Sci Sports Exerc"},{"key":"568_CR23","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1136\/ard.53.12.841-c","volume":"53","author":"AA Deodhar","year":"1994","unstructured":"Deodhar AA, Woolf AD. Ehlers Danlos syndrome and osteoporosis. Ann Rheum Dis. 1994;53:841\u20132.","journal-title":"Ann Rheum Dis"},{"key":"568_CR24","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1136\/ard.53.3.212-b","volume":"53","author":"PC Coelho","year":"1994","unstructured":"Coelho PC, Santos RA, Gomes JA. Osteoporosis and Ehlers-Danlos syndrome. Ann Rheum Dis. 1994;53:212\u20133.","journal-title":"Ann Rheum Dis"},{"key":"568_CR25","doi-asserted-by":"crossref","first-page":"3225","DOI":"10.2169\/internalmedicine.51.7778","volume":"51","author":"SJ Theodorou","year":"2012","unstructured":"Theodorou SJ, Theodorou DJ, Kakitsubata Y, Adams JE. Low bone mass in Ehlers-Danlos syndrome. Intern Med. 2012;51:3225\u20136.","journal-title":"Intern Med"},{"key":"568_CR26","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1007\/s12020-018-1822-y","volume":"63","author":"AM Formenti","year":"2019","unstructured":"Formenti AM, Doga M, Frara S, Ritelli M, Colombi M, Banfi G, et al. Skeletal fragility: an emerging complication of Ehlers-Danlos syndrome. Endocrine. 2019;63:225\u201330.","journal-title":"Endocrine"},{"key":"568_CR27","doi-asserted-by":"crossref","first-page":"630","DOI":"10.1136\/ard.57.10.630","volume":"57","author":"AL Dolan","year":"1998","unstructured":"Dolan AL, Arden NK, Grahame R, Spector TD. Assessment of bone in Ehlers Danlos syndrome by ultrasound and densitometry. Ann Rheum Dis. 1998;57:630\u20133.","journal-title":"Ann Rheum Dis"},{"key":"568_CR28","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1007\/s001980070104","volume":"11","author":"L Carbone","year":"2000","unstructured":"Carbone L, Tylavsky FA, Bush AJ, Koo W, Orwoll E, Cheng S. Bone density in Ehlers-Danlos syndrome. Osteoporos Int. 2000;11:388\u201392.","journal-title":"Osteoporos Int"},{"key":"568_CR29","doi-asserted-by":"publisher","unstructured":"Banica T, Coussens M, Verroken C, Calders P, De Wandele I, Malfait F, et al. Higher fracture prevalence and smaller bone size in patients with hEDS\/HSD-a prospective cohort study. Osteoporos Int. 2019. https:\/\/doi.org\/10.1007\/s00198-019-05269-z.","DOI":"10.1007\/s00198-019-05269-z"},{"key":"568_CR30","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1302\/0301-620X.51B3.444","volume":"51","author":"P Beighton","year":"1969","unstructured":"Beighton P, Horan F. Orthopaedic aspects of the Ehlers-Danlos syndrome. J Bone Joint Surg Br. 1969;51:444\u201353.","journal-title":"J Bone Joint Surg Br"},{"key":"568_CR31","doi-asserted-by":"crossref","unstructured":"\u2022 Mazziotti G, Dordoni C, Doga M, Galderisi F, Venturini M, Calzavara-Pinton P, et al. High prevalence of radiological vertebral fractures in adult patients with Ehlers-Danlos syndrome. Bone. 2016;84:88\u201392. This is a cross-sectional study that evaluates the prevalence of vertebral shape abnormalities and bone mineral density in 52 patients with different types of Ehlers-Danlos syndrome. Abnormal vertebral morphometry was more prevalent in EDS.","DOI":"10.1016\/j.bone.2015.12.007"},{"key":"568_CR32","doi-asserted-by":"crossref","unstructured":"\u2022 Eller-Vainicher C, Bassotti A, Imeraj A, Cairoli E, Ulivieri FM, Cortini F, et al. Bone involvement in adult patients affected with Ehlers-Danlos syndrome. Osteoporos Int. 2016;27:2525\u201331. This is a retrospective study of 50 patients with classic and hypermobile EDS. The EDS group had lower bone mineral density and a higher prevalence of abnormal vertebral morphometry results than an age-matched control group.","DOI":"10.1007\/s00198-016-3562-2"},{"key":"568_CR33","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1016\/S0929-6646(09)60187-X","volume":"105","author":"JL Yen","year":"2006","unstructured":"Yen JL, Lin SP, Chen MR, Niu DM. Clinical features of Ehlers-Danlos syndrome. J Formos Med Assoc. 2006;105:475\u201380.","journal-title":"J Formos Med Assoc"},{"key":"568_CR34","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1016\/j.jocd.2014.01.004","volume":"17","author":"N Bishop","year":"2014","unstructured":"Bishop N, Arundel P, Clark E, Dimitri P, Farr J, Jones G, et al. Fracture prediction and the definition of osteoporosis in children and adolescents: the ISCD 2013 pediatric official positions. J Clin Densitom. 2014;17:275\u201380.","journal-title":"J Clin Densitom"},{"key":"568_CR35","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1016\/j.jpeds.2016.10.078","volume":"181","author":"CM Stern","year":"2017","unstructured":"Stern CM, Pepin MJ, Stoler JM, Kramer DE, Spencer SA, Stein CJ. Musculoskeletal conditions in a pediatric population with Ehlers-Danlos syndrome. J Pediatr. 2017;181:261\u20136.","journal-title":"J Pediatr"},{"key":"568_CR36","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1016\/j.bone.2016.01.015","volume":"85","author":"RJ Moon","year":"2016","unstructured":"Moon RJ, Harvey NC, Curtis EM, de Vries F, van Staa T, Cooper C. Ethnic and geographic variations in the epidemiology of childhood fractures in the United Kingdom. Bone. 2016;85:9\u201314.","journal-title":"Bone"},{"key":"568_CR37","doi-asserted-by":"crossref","first-page":"e1279768","DOI":"10.1080\/19381980.2017.1279768","volume":"9","author":"MF Holick","year":"2017","unstructured":"Holick MF, Hossein-Nezhad A, Tabatabaei F. Multiple fractures in infants who have Ehlers-Danlos\/hypermobility syndrome and or vitamin D deficiency: a case series of 72 infants whose parents were accused of child abuse and neglect. Dermatoendocrinol. 2017;9:e1279768.","journal-title":"Dermatoendocrinol"},{"key":"568_CR38","doi-asserted-by":"crossref","unstructured":"\u2022 Rolfes MC, Deyle DR, King KS, Hand JL, Graff AH, Derauf C. Fracture incidence in Ehlers-Danlos syndrome\u2014a population-based case-control study. Child Abuse Negl. 2019;91:95\u2013101. This is a well-conducted population-based case-control study of fracture incidence in Ehlers Danlos syndrome in infancy and childhood. It finds no evidence that infants with commom types of EDS are predisposed to fractures.","DOI":"10.1016\/j.chiabu.2019.03.008"},{"key":"568_CR39","doi-asserted-by":"crossref","first-page":"3475","DOI":"10.1093\/hmg\/ddy234","volume":"27","author":"T Van Damme","year":"2018","unstructured":"Van Damme T, Pang X, Guillemyn B, Gulberti S, Syx D, De Rycke R, et al. Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome. Hum Mol Genet. 2018;27:3475\u201387.","journal-title":"Hum Mol Genet"},{"key":"568_CR40","doi-asserted-by":"crossref","first-page":"1556","DOI":"10.1002\/ajmg.a.37604","volume":"170","author":"CG Salter","year":"2016","unstructured":"Salter CG, Davies JH, Moon RJ, Fairhurst J, Bunyan D, Foulds N. Further defining the phenotypic spectrum of B4GALT7 mutations. Am J Med Genet A. 2016;170:1556\u201363.","journal-title":"Am J Med Genet A"},{"key":"568_CR41","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1186\/s13023-017-0704-3","volume":"12","author":"M Ritelli","year":"2017","unstructured":"Ritelli M, Dordoni C, Cinquina V, Venturini M, Calzavara-Pinton P, Colombi M. Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome. Orphanet J Rare Dis. 2017;12:153.","journal-title":"Orphanet J Rare Dis"},{"key":"568_CR42","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1016\/j.bone.2019.03.029","volume":"124","author":"C Sandler-Wilson","year":"2019","unstructured":"Sandler-Wilson C, Wambach JA, Marshall BA, Wegner DJ, McAlister W, Cole FS, et al. Phenotype and response to growth hormone therapy in siblings with B4GALT7 deficiency. Bone. 2019;124:14\u201321.","journal-title":"Bone"},{"key":"568_CR43","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1038\/gim.2017.70","volume":"20","author":"C Giunta","year":"2018","unstructured":"Giunta C, Baumann M, Fauth C, Lindert U, Abdalla EM, Brady AF, et al. A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history. Genet Med. 2018;20:42\u201354.","journal-title":"Genet Med"},{"key":"568_CR44","doi-asserted-by":"crossref","first-page":"103730","DOI":"10.1016\/j.ejmg.2019.103730","volume":"63","author":"J Duong","year":"2019","unstructured":"Duong J, Rideout A, MacKay S, Beis J, Parkash S, Schwarze U, et al. A family with classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1. Eur J Med Genet. 2019;63:103730.","journal-title":"Eur J Med Genet"},{"key":"568_CR45","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1002\/ajmg.c.31429","volume":"169c","author":"M Colombi","year":"2015","unstructured":"Colombi M, Dordoni C, Chiarelli N, Ritelli M. Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome\/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders. Am J Med Genet C Semin Med Genet. 2015;169c:6\u201322.","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"568_CR46","doi-asserted-by":"crossref","first-page":"19259","DOI":"10.1074\/jbc.M414698200","volume":"280","author":"WA Cabral","year":"2005","unstructured":"Cabral WA, Makareeva E, Colige A, Letocha AD, Ty JM, Yeowell HN, et al. Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta\/Ehlers-Danlos syndrome by interference with N-propeptide processing. J Biol Chem. 2005;280:19259\u201369.","journal-title":"J Biol Chem"},{"key":"568_CR47","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1186\/1750-1172-8-78","volume":"8","author":"F Malfait","year":"2013","unstructured":"Malfait F, Symoens S, Goemans N, Gyftodimou Y, Holmberg E, Lopez-Gonzalez V, et al. Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an osteogenesis imperfecta\/Ehlers-Danlos syndrome overlap syndrome. Orphanet J Rare Dis. 2013;8:78.","journal-title":"Orphanet J Rare Dis."},{"key":"568_CR48","doi-asserted-by":"crossref","first-page":"3607","DOI":"10.1007\/s00198-016-3709-1","volume":"27","author":"G Bardai","year":"2016","unstructured":"Bardai G, Moffatt P, Glorieux FH, Rauch F. DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum. Osteoporos Int. 2016;27:3607\u201313.","journal-title":"Osteoporos Int"},{"key":"568_CR49","doi-asserted-by":"crossref","first-page":"37","DOI":"10.5582\/irdr.2018.01010","volume":"7","author":"Y Lu","year":"2018","unstructured":"Lu Y, Wang Y, Rauch F, Li H, Zhang Y, Zhai N, et al. Osteogenesis imperfecta type III\/Ehlers-Danlos overlap syndrome in a Chinese man. Intractable Rare Dis Res. 2018;7:37\u201341.","journal-title":"Intractable Rare Dis Res"},{"key":"568_CR50","doi-asserted-by":"crossref","first-page":"1119","DOI":"10.1038\/gim.2016.14","volume":"18","author":"RA Weerakkody","year":"2016","unstructured":"Weerakkody RA, Vandrovcova J, Kanonidou C, Mueller M, Gampawar P, Ibrahim Y, et al. Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome. Genet Med. 2016;18:1119\u201327.","journal-title":"Genet Med"},{"key":"568_CR51","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1002\/ajmg.a.36285","volume":"164A","author":"AM Vandersteen","year":"2014","unstructured":"Vandersteen AM, Lund AM, Ferguson DJ, Sawle P, Pollitt RC, Holder SE, et al. Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations. Am J Med Genet A. 2014;164A:386\u201391.","journal-title":"Am J Med Genet A"},{"key":"568_CR52","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1016\/j.gendis.2019.03.001","volume":"6","author":"T Budsamongkol","year":"2019","unstructured":"Budsamongkol T, Intarak N, Theerapanon T, Yodsanga S, Porntaveetus T, Shotelersuk V. A novel mutation in COL1A2 leads to osteogenesis imperfecta\/Ehlers-Danlos overlap syndrome with brachydactyly. Genes Dis. 2019;6:138\u201346.","journal-title":"Genes Dis"},{"key":"568_CR53","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1002\/ajmg.a.32653","volume":"149A","author":"E Faqeih","year":"2009","unstructured":"Faqeih E, Roughley P, Glorieux FH, Rauch F. Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2. Am J Med Genet A. 2009;149A:461\u20135.","journal-title":"Am J Med Genet A"},{"key":"568_CR54","doi-asserted-by":"crossref","first-page":"1080","DOI":"10.1002\/ajmg.a.37547","volume":"170a","author":"L Mackenroth","year":"2016","unstructured":"Mackenroth L, Fischer-Zirnsak B, Egerer J, Hecht J, Kallinich T, Stenzel W, et al. An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing. Am J Med Genet A. 2016;170a:1080\u20135.","journal-title":"Am J Med Genet A"},{"key":"568_CR55","doi-asserted-by":"crossref","first-page":"1047","DOI":"10.1002\/ajmg.a.38135","volume":"173","author":"S Symoens","year":"2017","unstructured":"Symoens S, Steyaert W, Demuynck L, De Paepe A, Diderich KE, Malfait F, et al. Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI\/EDS overlap syndrome. Am J Med Genet A. 2017;173:1047\u201350.","journal-title":"Am J Med Genet A"},{"key":"568_CR56","doi-asserted-by":"crossref","first-page":"3427","DOI":"10.1007\/s00198-016-3723-3","volume":"27","author":"P Trejo","year":"2016","unstructured":"Trejo P, Rauch F. Osteogenesis imperfecta in children and adolescents\u2014new developments in diagnosis and treatment. Osteoporos Int. 2016;27:3427\u201337.","journal-title":"Osteoporos Int"}],"container-title":["Current Osteoporosis Reports"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s11914-020-00568-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s11914-020-00568-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s11914-020-00568-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,3,12]],"date-time":"2021-03-12T00:49:58Z","timestamp":1615510198000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s11914-020-00568-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,3,12]]},"references-count":56,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2020,4]]}},"alternative-id":["568"],"URL":"https:\/\/doi.org\/10.1007\/s11914-020-00568-5","relation":{},"ISSN":["1544-1873","1544-2241"],"issn-type":[{"value":"1544-1873","type":"print"},{"value":"1544-2241","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,3,12]]},"assertion":[{"value":"12 March 2020","order":1,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with Ethical Standards"}},{"value":"Shuaa Basalom and Frank Rauch declare no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}},{"value":"This article does not contain any studies with human or animal subjects performed by any of the authors.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Human and Animal Rights and Informed Consent"}}]}}