{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T20:57:26Z","timestamp":1790629046298,"version":"4.1.0"},"reference-count":65,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,8,19]],"date-time":"2021-08-19T00:00:00Z","timestamp":1629331200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,8,19]],"date-time":"2021-08-19T00:00:00Z","timestamp":1629331200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Bundesverband Neurofibromatose e.V."},{"name":"Universit\u00e4tsklinikum Hamburg-Eppendorf (UKE)"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Sci Rep"],"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Neurofibromatosis Type 1 (NF1) has been reported to be associated with a variety of spinal abnormalities. The purpose of this study was to quantify the prevalence of spinal abnormalities in a collective of NF1 patients that is representative for the general NF1 population, to associate the co-appearance of spinal abnormalities with both NF1 and clinical symptoms and to investigate if different mutations of the <jats:italic>NF1<\/jats:italic> gene affect the prevalence of these abnormalities. Retrospectively, 275 patients with NF1 and an age- and sex-matched collective of 262 patients were analyzed. The prevalence of spinal abnormalities was recorded. Mutational analysis of the <jats:italic>NF1<\/jats:italic> gene was obtained in 235 NF1 patients. Associations between spinal abnormalities, clinical symptoms and genotype were investigated by binary logistic regression analysis. Prevalence of all spinal abnormalities was higher in NF1 patients than in the control group. Six characteristics of spinal abnormalities were significantly associated with NF1 (all <jats:italic>p<\/jats:italic>\u2009&lt;\u20090.05). An influence of scalloping on scoliosis (OR\u20093.01; <jats:italic>p<\/jats:italic>\u2009=\u20090.002); of meningoceles (OR\u20097.63) and neuroforaminal tumors (OR\u20092.96) on scalloping, and of dural ectasia on neuroforaminal tumors (OR\u20091.93) was identified. Backpain and loss of motor function were associated with neuroforaminal tumors, spinal tumors and scalloping of vertebral bodies (all <jats:italic>p<\/jats:italic>\u2009&lt;\u20090.05). Specific mutations of the <jats:italic>NF1<\/jats:italic> gene were not relevantly associated with the development of spinal abnormalities. These findings can aid clinicians to improve clinical care of NF1 patients by creating awareness for co-appearences of specific spinal abnormalities and associated symptoms.<\/jats:p>","DOI":"10.1038\/s41598-021-96310-x","type":"journal-article","created":{"date-parts":[[2021,8,19]],"date-time":"2021-08-19T10:30:05Z","timestamp":1629369005000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Phenotyping spinal abnormalities in patients with Neurofibromatosis type 1 using whole-body MRI"],"prefix":"10.1038","volume":"11","author":[{"given":"Lennart","family":"Well","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Careddu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Stark","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Said","family":"Farschtschi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Bannas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerhard","family":"Adam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victor-Felix","family":"Mautner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes","family":"Salamon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,8,19]]},"reference":[{"key":"96310_CR1","doi-asserted-by":"publisher","first-page":"712","DOI":"10.1136\/jmg.26.11.712","volume":"26","author":"SM Huson","year":"1989","unstructured":"Huson, S. M., Compston, D. A. & Harper, P. S. A genetic study of von Recklinghausen neurofibromatosis in south east Wales. II. Guidelines for genetic counselling. J. Med. Genet. 26, 712\u2013721. https:\/\/doi.org\/10.1136\/jmg.26.11.712 (1989).","journal-title":"J. Med. Genet."},{"key":"96310_CR2","doi-asserted-by":"publisher","first-page":"874","DOI":"10.1093\/hmg\/ddm032","volume":"16","author":"M Kolanczyk","year":"2007","unstructured":"Kolanczyk, M. et al. Multiple roles for neurofibromin in skeletal development and growth. Hum. Mol. Genet. 16, 874\u2013886 (2007).","journal-title":"Hum. Mol. Genet."},{"key":"96310_CR3","doi-asserted-by":"publisher","first-page":"2006","DOI":"10.1002\/1097-0142(19860515)57:10","volume":"57","author":"BS Ducatman","year":"1986","unstructured":"Ducatman, B. S., Scheithauer, B. W., Piepgras, D. G. & Reiman, H. M. Ilstrup DM. Malignant peripheral nerve sheath tumors. A clinicopathologic study of 120 cases. Cancer.  57(10), 2006\u20132021. https:\/\/doi.org\/10.1002\/1097-0142(19860515)57:10 (1986)","journal-title":"Cancer"},{"key":"96310_CR4","doi-asserted-by":"publisher","DOI":"10.1093\/neuonc\/noy199","author":"L Well","year":"2018","unstructured":"Well, L. et al. Differentiation of peripheral nerve sheath tumors in patients with neurofibromatosis type 1 using diffusion-weighted magnetic resonance imaging. Neuro. Oncol. https:\/\/doi.org\/10.1093\/neuonc\/noy199 (2018).","journal-title":"Neuro. Oncol."},{"key":"96310_CR5","doi-asserted-by":"publisher","first-page":"W99","DOI":"10.2214\/AJR.11.7811","volume":"199","author":"NB Patel","year":"2012","unstructured":"Patel, N. B. & Stacy, G. S. Musculoskeletal manifestations of neurofibromatosis type 1. AJR. Am. J. Roentgenol. 199, W99-106 (2012).","journal-title":"AJR. Am. J. Roentgenol."},{"key":"96310_CR6","doi-asserted-by":"publisher","first-page":"553","DOI":"10.1016\/j.ocl.2007.03.008","volume":"38","author":"AH Crawford","year":"2007","unstructured":"Crawford, A. H. & Herrera-Soto, J. Scoliosis associated with neurofibromatosis. Orthop. Clin. North Am. 38, 553\u2013562 (2007).","journal-title":"Orthop. Clin. North Am."},{"issue":"Suppl 1","key":"96310_CR7","first-page":"123","volume":"89","author":"AH Crawford","year":"2007","unstructured":"Crawford, A. H., Parikh, S., Schorry, E. K. & Von Stein, D. The immature spine in type-1 neurofibromatosis. J. Bone Joint Surg. Am. 89(Suppl 1), 123\u2013142 (2007).","journal-title":"J. Bone Joint Surg. Am."},{"key":"96310_CR8","unstructured":"Brooks, B. & Lehman, E. Bone changes in Recklinghausen\u2019s neurofibromatosis. Surg. Gynec. Obs. 38, 587\u2013595 (1924)."},{"key":"96310_CR9","doi-asserted-by":"crossref","unstructured":"Gould, E. P. The bone changes occurring in Von Recklinghausen\u2019s disease. QJM os-11, 221\u2013228 (1918).","DOI":"10.1093\/qjmed\/os-11.43.221"},{"key":"96310_CR10","doi-asserted-by":"crossref","unstructured":"Winter, R. B. et al. Spine deformity in neurofibromatosis. A review of one hundred and two patients. J. Bone Joint Surg. Am. 61, 677\u201394 (1979).","DOI":"10.2106\/00004623-197961050-00006"},{"key":"96310_CR11","doi-asserted-by":"publisher","first-page":"413","DOI":"10.1097\/01.bpo.0000217719.10728.39","volume":"26","author":"AH Crawford","year":"2006","unstructured":"Crawford, A. H. & Schorry, E. K. Neurofibromatosis update. J. Pediatr. Orthop. 26, 413\u2013423 (2006).","journal-title":"J. Pediatr. Orthop."},{"issue":"5","key":"96310_CR12","doi-asserted-by":"publisher","first-page":"692","DOI":"10.2106\/00004623-199405000-00010","volume":"76","author":"H Funasaki","year":"1994","unstructured":"Funasaki, H., Winter, R. B., Lonstein, J. B. & Denis, F. Pathophysiology of spinal deformities in neurofibromatosis. An analysis of seventy-one patients who had curves associated with dystrophic changes. J. Bone Joint Surg. Am.  76(5), 692\u2013700. https:\/\/doi.org\/10.2106\/00004623-199405000-00010 (1994)","journal-title":"J. Bone Joint Surg. Am."},{"issue":"8 Suppl","key":"96310_CR13","doi-asserted-by":"publisher","first-page":"S244","DOI":"10.1097\/00007632-199208001-00005","volume":"17","author":"BA Akbarnia","year":"2010","unstructured":"Akbarnia, B. A., Gabriel, K. R., Beckman, E., Chalk, D. Prevalence of scoliosis in neurofibromatosis. Spine (Phila Pa 1976). 17(8 Suppl), S244\u20138. https:\/\/doi.org\/10.1097\/00007632-199208001-00005 (1992)","journal-title":"Spine (Phila Pa 1976)"},{"key":"96310_CR14","doi-asserted-by":"publisher","first-page":"346","DOI":"10.5435\/00124635-201006000-00007","volume":"18","author":"DS Feldman","year":"2010","unstructured":"Feldman, D. S., Jordan, C. & Fonseca, L. Orthopaedic manifestations of neurofibromatosis type 1. J. Am. Acad. Orthop. Surg. 18, 346\u2013357 (2010).","journal-title":"J. Am. Acad. Orthop. Surg."},{"key":"96310_CR15","doi-asserted-by":"publisher","first-page":"427","DOI":"10.1007\/s00586-004-0829-7","volume":"14","author":"AI Tsirikos","year":"2005","unstructured":"Tsirikos, A. I., Saifuddin, A. & Noordeen, M. H. Spinal deformity in neurofibromatosis type-1: Diagnosis and treatment. Eur. Spine J. 14, 427\u2013439 (2005).","journal-title":"Eur. Spine J."},{"key":"96310_CR16","doi-asserted-by":"publisher","first-page":"1654","DOI":"10.1002\/ajmg.a.36001","volume":"161A","author":"L Armstrong","year":"2013","unstructured":"Armstrong, L. et al. The generalized bone phenotype in children with neurofibromatosis 1: A sibling matched case\u2013control study. Am. J. Med. Genet. A 161A, 1654\u20131661 (2013).","journal-title":"Am. J. Med. Genet. A"},{"key":"96310_CR17","doi-asserted-by":"publisher","first-page":"810","DOI":"10.1136\/jmg.2006.041095","volume":"43","author":"M Lammert","year":"2006","unstructured":"Lammert, M. et al. Vitamin D deficiency associated with number of neurofibromas in neurofibromatosis 1. J. Med. Genet. 43, 810\u2013813 (2006).","journal-title":"J. Med. Genet."},{"key":"96310_CR18","doi-asserted-by":"crossref","unstructured":"Meszaros, W. T., Guzzo, F. & Schorsch, H. Neurofibromatosis. Am. J. Roentgenol. Radium Ther. Nucl. Med. 98, 557\u2013569 (1966).","DOI":"10.2214\/ajr.98.3.557"},{"key":"96310_CR19","doi-asserted-by":"publisher","first-page":"647","DOI":"10.1148\/51.5.647","volume":"51","author":"JF Holt","year":"1948","unstructured":"Holt, J. F. & Wright, E. M. The radiologic features of neurofibromatosis. Radiology 51, 647\u2013664 (1948).","journal-title":"Radiology"},{"key":"96310_CR20","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1148\/76.1.1","volume":"76","author":"JC Hunt","year":"1961","unstructured":"Hunt, J. C. & Pugh, D. G. Skeletal lesions in neurofibromatosis. Radiology 76, 1\u201320 (1961).","journal-title":"Radiology"},{"key":"96310_CR21","doi-asserted-by":"publisher","first-page":"1009","DOI":"10.1016\/j.crad.2004.04.006","volume":"59","author":"AI Tsirikos","year":"2004","unstructured":"Tsirikos, A. I., Ramachandran, M., Lee, J. & Saifuddin, A. Assessment of vertebral scalloping in neurofibromatosis type 1 with plain radiography and MRI. Clin. Radiol. 59, 1009\u20131017 (2004).","journal-title":"Clin. Radiol."},{"key":"96310_CR22","doi-asserted-by":"publisher","first-page":"72","DOI":"10.1097\/01241398-198601000-00015","volume":"6","author":"H Crawford","year":"1986","unstructured":"Crawford, H. & Bagamery, N. Osseous manifestations of neurofibromatosis in childhood. J. Pediatr. Orthop. 6, 72\u201388 (1986).","journal-title":"J. Pediatr. Orthop."},{"key":"96310_CR23","doi-asserted-by":"publisher","first-page":"928","DOI":"10.1007\/s00198-004-1801-4","volume":"16","author":"T Kuorilehto","year":"2005","unstructured":"Kuorilehto, T. et al. Decreased bone mineral density and content in neurofibromatosis type 1: Lowest local values are located in the load-carrying parts of the body. Osteoporos. Int. 16, 928\u2013936 (2005).","journal-title":"Osteoporos. Int."},{"key":"96310_CR24","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1016\/j.ymgme.2007.12.004","volume":"94","author":"N Brunetti-Pierri","year":"2008","unstructured":"Brunetti-Pierri, N. et al. Generalized metabolic bone disease in neurofibromatosis type I. Mol. Genet. Metab. 94, 105\u2013111 (2008).","journal-title":"Mol. Genet. Metab."},{"key":"96310_CR25","doi-asserted-by":"publisher","first-page":"259","DOI":"10.1136\/jmg.2008.061895","volume":"46","author":"T Tucker","year":"2009","unstructured":"Tucker, T. et al. Bone health and fracture rate in individuals with neurofibromatosis 1 (NF1). J. Med. Genet. 46, 259\u2013265 (2009).","journal-title":"J. Med. Genet."},{"key":"96310_CR26","doi-asserted-by":"publisher","first-page":"349","DOI":"10.1007\/s00439-017-1766-y","volume":"136","author":"H Kehrer-Sawatzki","year":"2017","unstructured":"Kehrer-Sawatzki, H., Mautner, V.-F. & Cooper, D. N. Emerging genotype\u2013phenotype relationships in patients with large NF1 deletions. Hum. Genet. 136, 349\u2013376 (2017).","journal-title":"Hum. Genet."},{"issue":"24","key":"96310_CR27","doi-asserted-by":"publisher","first-page":"e2521","DOI":"10.1212\/WNL.0000000000009490","volume":"94","author":"Y Liu","year":"2020","unstructured":"Liu, Y. et al. Neurology 94(24), e2521\u2013e2531. https:\/\/doi.org\/10.1212\/WNL.0000000000009490 (2020)","journal-title":"Neurology"},{"key":"96310_CR28","doi-asserted-by":"crossref","unstructured":"Upadhyaya, M. et al. An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970\u20132972 delAAT): Evidence of a clinically significant NF1 genotype\u2013phenotype correlation. Am. J. Hum. Genet. 80, 140\u2013151 (2007).","DOI":"10.1086\/510781"},{"key":"96310_CR29","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1007\/s10048-009-0178-0","volume":"10","author":"M Upadhyaya","year":"2009","unstructured":"Upadhyaya, M. et al. The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas. Neurogenetics 10, 251\u2013263 (2009).","journal-title":"Neurogenetics"},{"key":"96310_CR30","doi-asserted-by":"publisher","first-page":"483","DOI":"10.1097\/01.bsd.0000133466.97241.50","volume":"17","author":"M Ramachandran","year":"2004","unstructured":"Ramachandran, M., Tsirikos, A. I., Lee, J. & Saifuddin, A. Whole-spine magnetic resonance imaging in patients with neurofibromatosis type 1 and spinal deformity. J. Spinal Disord. Tech. 17, 483\u2013491 (2004).","journal-title":"J. Spinal Disord. Tech."},{"key":"96310_CR31","doi-asserted-by":"publisher","DOI":"10.1080\/02688697.2019.1673313","author":"S Shah","year":"2019","unstructured":"Shah, S. & George, K. J. The association of spinal deformity with dural ectasia in neurofibromatosis type 1. Br. J. Neurosurg. https:\/\/doi.org\/10.1080\/02688697.2019.1673313 (2019).","journal-title":"Br. J. Neurosurg."},{"key":"96310_CR32","doi-asserted-by":"publisher","first-page":"917","DOI":"10.1007\/s00256-011-1333-x","volume":"41","author":"JL Jaremko","year":"2012","unstructured":"Jaremko, J. L. et al. Whole-body MRI in neurofibromatosis: Incidental findings and prevalence of scoliosis. Skeletal Radiol. 41, 917\u2013923 (2012).","journal-title":"Skeletal Radiol."},{"key":"96310_CR33","doi-asserted-by":"publisher","first-page":"126","DOI":"10.3171\/2018.7.SPINE171340","volume":"30","author":"M Waqar","year":"2019","unstructured":"Waqar, M. et al. C2 neurofibromas in neurofibromatosis type 1: Genetic and imaging characteristics. J. Neurosurg. Spine 30, 126\u2013132 (2019).","journal-title":"J. Neurosurg. Spine"},{"key":"96310_CR34","unstructured":"National Institutes of Health Consensus Development Conference Statement: neurofibromatosis. Bethesda, Md., USA, July 13-15, 1987. Neurofibromatosis 1(3), 172\u2013178  (1988)."},{"key":"96310_CR35","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1002\/humu.10299","volume":"23","author":"L Kluwe","year":"2004","unstructured":"Kluwe, L. et al. Screening 500 unselected neurofibromatosis 1 patients for deletions of theNF1 gene. Hum. Mutat. 23, 111\u2013116 (2004).","journal-title":"Hum. Mutat."},{"key":"96310_CR36","doi-asserted-by":"publisher","first-page":"420","DOI":"10.1002\/humu.9193","volume":"22","author":"L Kluwe","year":"2003","unstructured":"Kluwe, L., Friedrich, R. E., Peiper, M., Friedman, J. & Mautner, V. F. Constitutional NF1 mutations in neurofibromatosis 1 patients with malignant peripheral nerve sheath tumors. Hum. Mutat. 22, 420 (2003).","journal-title":"Hum. Mutat."},{"key":"96310_CR37","unstructured":"Cobb, J. Outline for the study of scoliosis. Am. Acad. Orthop. Surg. Instr Course Lect. 5, 261\u2013275 (1948)."},{"key":"96310_CR38","unstructured":"Ross, J. S. & Moore, K. R. Diagnostic Imaging: Spine. (2015)."},{"key":"96310_CR39","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1007\/BF01428512","volume":"134","author":"HLJ Tanghe","year":"1995","unstructured":"Tanghe, H. L. J. Magnetic resonance imaging (MRI) in syringomyelia. Acta Neurochir. (Wien) 134, 93\u201399 (1995).","journal-title":"Acta Neurochir. (Wien)"},{"key":"96310_CR40","doi-asserted-by":"publisher","first-page":"514","DOI":"10.1148\/radiology.220.2.r01au08514","volume":"220","author":"T Oosterhof","year":"2001","unstructured":"Oosterhof, T. et al. Quantitative assessment of dural ectasia as a marker for Marfan syndrome. Radiology 220, 514\u2013518 (2001).","journal-title":"Radiology"},{"key":"96310_CR41","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1097\/00125817-200005000-00003","volume":"2","author":"N Ahn","year":"2000","unstructured":"Ahn, N., Sponseller, P., Ahn, U. et al. Dural ectasia in the Marfan syndrome: MR and CT findings and criteria. Genet Med 2, 173\u2013179. https:\/\/doi.org\/10.1097\/00125817-200005000-00003 (2000).","journal-title":"Genet Med"},{"key":"96310_CR42","doi-asserted-by":"publisher","first-page":"971","DOI":"10.1016\/j.crad.2006.05.015","volume":"61","author":"E Weigang","year":"2006","unstructured":"Weigang, E. et al. Evaluation of three different measurement methods for dural ectasia in Marfan syndrome. Clin. Radiol. 61, 971\u2013978 (2006).","journal-title":"Clin. Radiol."},{"key":"96310_CR43","doi-asserted-by":"publisher","first-page":"209","DOI":"10.1007\/s11060-014-1629-5","volume":"121","author":"R Nguyen","year":"2015","unstructured":"Nguyen, R., Dombi, E., Akshintala, S., Baldwin, A. & Widemann, B. C. Characterization of spinal findings in children and adults with neurofibromatosis type 1 enrolled in a natural history study using magnetic resonance imaging. J. Neurooncol. 121, 209\u2013215 (2015).","journal-title":"J. Neurooncol."},{"key":"96310_CR44","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1186\/1750-1172-7-75","volume":"7","author":"R Nguyen","year":"2012","unstructured":"Nguyen, R. et al. Growth dynamics of plexiform neurofibromas: A retrospective cohort study of 201 patients with neurofibromatosis 1. Orphanet J. Rare Dis. 7, 75 (2012).","journal-title":"Orphanet J. Rare Dis."},{"key":"96310_CR45","first-page":"949","volume":"23","author":"RE Friedrich","year":"2003","unstructured":"Friedrich, R. E., Korf, B., F\u00fcnsterer, C. & Mautner, V. F. Growth type of plexiform neurofibromas in NF1 determined on magnetic resonance images. Anticancer Res. 23, 949\u2013952 (2003).","journal-title":"Anticancer Res."},{"key":"96310_CR46","doi-asserted-by":"publisher","first-page":"535","DOI":"10.1148\/radiol.2342031497","volume":"234","author":"CR Habermann","year":"2005","unstructured":"Habermann, C. R. et al. MR evaluation of dural ectasia in Marfan syndrome: Reassessment of the established criteria in children, adolescents, and young adults. Radiology 234, 535\u2013541 (2005).","journal-title":"Radiology"},{"key":"96310_CR47","doi-asserted-by":"publisher","first-page":"514","DOI":"10.1148\/radiology.220.2.r01au08514","volume":"220","author":"T Oosterhof","year":"2001","unstructured":"Oosterhof, T. et al. Quantitative assessment of dural ectasia as a marker for Marfan syndrome. Radiology 220, 514\u2013518 (2001).","journal-title":"Radiology"},{"key":"96310_CR48","first-page":"264","volume":"39","author":"MZ Janjua","year":"1989","unstructured":"Janjua, M. Z. & Muhammad, F. Measurements of the normal adult lumbar spinal canal. J. Pak. Med. Assoc. 39, 264\u2013268 (1989).","journal-title":"J. Pak. Med. Assoc."},{"key":"96310_CR49","doi-asserted-by":"publisher","first-page":"910","DOI":"10.1016\/S0140-6736(98)12448-0","volume":"354","author":"R Fattori","year":"1999","unstructured":"Fattori, R. et al. Importance of dural ectasia in phenotypic assessment of Marfan\u2019s syndrome. Lancet 354, 910\u2013913 (1999).","journal-title":"Lancet"},{"key":"96310_CR50","doi-asserted-by":"publisher","first-page":"1137","DOI":"10.1002\/jbmr.5650080915","volume":"8","author":"HK Genant","year":"2009","unstructured":"Genant, H. K., Wu, C. Y., van Kuijk, C. & Nevitt, M. C. Vertebral fracture assessment using a semiquantitative technique. J. Bone Miner. Res. 8, 1137\u20131148 (2009).","journal-title":"J. Bone Miner. Res."},{"key":"96310_CR51","doi-asserted-by":"crossref","unstructured":"Lenchik, L., Rogers, L. F., Delmas, P. D. & Genant, H. K. Diagnosis of osteoporotic vertebral fractures: Importance of recognition and description by radiologists 183, 949\u2013958 (2004).","DOI":"10.2214\/ajr.183.4.1830949"},{"key":"96310_CR52","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1186\/s13023-021-01672-0","volume":"16","author":"M Avanesov","year":"2021","unstructured":"Avanesov, M. et al. Structural alteration of lung parenchyma in patients with NF1: A phenotyping study using multidetector computed tomography (MDCT). Orphanet J. Rare Dis. 16, 29 (2021).","journal-title":"Orphanet J. Rare Dis."},{"key":"96310_CR53","doi-asserted-by":"publisher","first-page":"236","DOI":"10.1016\/j.ejrad.2008.10.024","volume":"69","author":"SFL Van Meerbeeck","year":"2009","unstructured":"Van Meerbeeck, S. F. L., Verstraete, K. L., Janssens, S. & Mortier, G. Whole body MR imaging in neurofibromatosis type 1. Eur. J. Radiol. 69, 236\u2013242 (2009).","journal-title":"Eur. J. Radiol."},{"key":"96310_CR54","doi-asserted-by":"crossref","unstructured":"Firth, D. Bias reduction of maximum likelihood estimates. Biometrika 80, 27\u201338 (1993).","DOI":"10.1093\/biomet\/80.1.27"},{"key":"96310_CR55","doi-asserted-by":"crossref","unstructured":"Calvert, P. T., Edgar, M. A. & Webb, P. J. Scoliosis in neurofibromatosis. The natural history with and without operation. J. Bone Joint Surg. Br. 71, 246\u201351 (1989).","DOI":"10.1302\/0301-620X.71B2.2494186"},{"key":"96310_CR56","doi-asserted-by":"publisher","first-page":"233","DOI":"10.1007\/s00776-004-0869-1","volume":"10","author":"K Toyoda","year":"2005","unstructured":"Toyoda, K. et al. High-grade L5 spondylolisthesis associated with dural ectasia in neurofibromatosis. J. Orthop. Sci. 10, 233\u2013236 (2005).","journal-title":"J. Orthop. Sci."},{"key":"96310_CR57","doi-asserted-by":"crossref","unstructured":"Durrani, A. A., Crawford, A. H., Chouhdry, S. N., Saifuddin, A. & Morley, T. R. Modulation of spinal deformities in patients with neurofibromatosis type 1. Spine (Phila. Pa. 1976). 25, 69\u201375 (2000).","DOI":"10.1097\/00007632-200001010-00013"},{"key":"96310_CR58","doi-asserted-by":"publisher","first-page":"413","DOI":"10.2214\/ajr.180.2.1800413","volume":"180","author":"P-L Khong","year":"2003","unstructured":"Khong, P.-L., Goh, W. H. S., Wong, V. C. N., Fung, C.-W. & Ooi, G.-C. MR imaging of spinal tumors in children with neurofibromatosis 1. Am. J. Roentgenol. 180, 413\u2013417 (2003).","journal-title":"Am. J. Roentgenol."},{"key":"96310_CR59","doi-asserted-by":"publisher","first-page":"625","DOI":"10.1007\/s002340050814","volume":"41","author":"SD Thakkar","year":"1999","unstructured":"Thakkar, S. D., Feigen, U. & Mautner, V. F. Spinal tumours in neurofibromatosis type 1: An MRI study of frequency, multiplicity and variety. Neuroradiology 41, 625\u2013629 (1999).","journal-title":"Neuroradiology"},{"key":"96310_CR60","doi-asserted-by":"crossref","unstructured":"Hu, Z. et al. Morphological differences in the vertebrae of scoliosis secondary to neurofibromatosis type 1 with and without paraspinal neurofibromas. Spine (Phila. Pa. 1976). 41, 598\u2013602 (2016).","DOI":"10.1097\/BRS.0000000000001455"},{"key":"96310_CR61","doi-asserted-by":"crossref","unstructured":"Kluwe, L. et al. Internal tumor burden in neurofibromatosis type I patients with large NF1 deletions. Genes, Chromosom. Cancer 51, 447\u2013451 (2012).","DOI":"10.1002\/gcc.21931"},{"key":"96310_CR62","doi-asserted-by":"publisher","first-page":"401","DOI":"10.1111\/cge.12498","volume":"87","author":"M Ruggieri","year":"2015","unstructured":"Ruggieri, M. et al. The natural history of spinal neurofibromatosis: A critical review of clinical and genetic features. Clin. Genet. 87, 401\u2013410 (2015).","journal-title":"Clin. Genet."},{"key":"96310_CR63","doi-asserted-by":"crossref","unstructured":"Cai, S. et al. Transcriptome-wide sequencing reveals molecules and pathways involved in neurofibromatosis type I combined with spinal deformities. Spine (Phila. Pa. 1976). 45, E489\u2013E498 (2020).","DOI":"10.1097\/BRS.0000000000003338"},{"key":"96310_CR64","doi-asserted-by":"crossref","unstructured":"Shi, B. et al. How does the supine MRI correlate with standing radiographs of different curve severity in adolescent idiopathic scoliosis? Spine (Phila. Pa. 1976). 40, 1206\u20131212 (2015).","DOI":"10.1097\/BRS.0000000000000927"},{"key":"96310_CR65","doi-asserted-by":"publisher","first-page":"6","DOI":"10.1186\/s13013-017-0111-5","volume":"12","author":"RC Brink","year":"2017","unstructured":"Brink, R. C. et al. Upright, prone, and supine spinal morphology and alignment in adolescent idiopathic scoliosis. Scoliosis Sspinal Disord. 12, 6 (2017).","journal-title":"Scoliosis Sspinal Disord."}],"updated-by":[{"DOI":"10.1038\/s41598-021-97577-w","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2021,8,30]],"date-time":"2021-08-30T00:00:00Z","timestamp":1630281600000}}],"container-title":["Scientific Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41598-021-96310-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41598-021-96310-x","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41598-021-96310-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,3]],"date-time":"2022-12-03T13:00:43Z","timestamp":1670072443000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41598-021-96310-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,8,19]]},"references-count":65,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2021,12]]}},"alternative-id":["96310"],"URL":"https:\/\/doi.org\/10.1038\/s41598-021-96310-x","relation":{},"ISSN":["2045-2322"],"issn-type":[{"value":"2045-2322","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,8,19]]},"assertion":[{"value":"4 May 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 July 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 August 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 August 2021","order":4,"name":"change_date","label":"Change Date","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Correction","order":5,"name":"change_type","label":"Change Type","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"A Correction to this paper has been published:","order":6,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"https:\/\/doi.org\/10.1038\/s41598-021-97577-w","URL":"https:\/\/doi.org\/10.1038\/s41598-021-97577-w","order":7,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"16889"}}