{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T13:32:07Z","timestamp":1785159127371,"version":"3.55.0"},"reference-count":25,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2014,3,15]],"date-time":"2014-03-15T00:00:00Z","timestamp":1394841600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Musculoskelet Disord"],"published-print":{"date-parts":[[2014,12]]},"DOI":"10.1186\/1471-2474-15-84","type":"journal-article","created":{"date-parts":[[2014,3,15]],"date-time":"2014-03-15T04:07:56Z","timestamp":1394856476000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Comparison of orthopaedic manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations: a case control study"],"prefix":"10.1186","volume":"15","author":[{"given":"Sang Gyo","family":"Seo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hae-Ryong","family":"Song","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hyun Woo","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Won Joon","family":"Yoo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jong Sup","family":"Shim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chin Youb","family":"Chung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moon Seok","family":"Park","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chang-Wug","family":"Oh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Changhoon","family":"Jeong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kwang Soon","family":"Song","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ok-Hwa","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sung Sup","family":"Park","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"In Ho","family":"Choi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tae-Joon","family":"Cho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2014,3,15]]},"reference":[{"key":"2425_CR1","doi-asserted-by":"publisher","DOI":"10.1093\/med\/9780195396089.001.0001","volume-title":"Bone dysplasias; An atlas of genetic disorders of skeletal development","author":"JW Spranger","year":"2012","unstructured":"Spranger JW, Brill P, Superti-Furga A, Unger S, Nishimura G: Skeletal dysplasias with predominant epiphyseal involvement. Bone dysplasias; An atlas of genetic disorders of skeletal development. 2012, Oxford: Oxford University Press, Section II, 3","edition":"3"},{"key":"2425_CR2","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1007\/s002470000362","volume":"31","author":"SL Unger","year":"2001","unstructured":"Unger SL, Briggs MD, Holden P, Zabel B, Ala-Kokko L, Paassilta P, Lohiniva J, Rimoin DL, Lachman RS, Cohn DH: Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype. Pediatr Radio. 2001, 31: 10-18.","journal-title":"Pediatr Radio"},{"key":"2425_CR3","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1016\/j.berh.2007.11.009","volume":"22","author":"S Unger","year":"2008","unstructured":"Unger S, Bonafe L, Superti-Furga A: Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis. Best Pract Res Clin Rheumatol. 2008, 22: 19-32.","journal-title":"Best Pract Res Clin Rheumatol"},{"key":"2425_CR4","doi-asserted-by":"publisher","first-page":"465","DOI":"10.1002\/humu.10066","volume":"19","author":"MD Briggs","year":"2002","unstructured":"Briggs MD, Chapman KL: Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations. Hum Mutat. 2002, 19: 465-478.","journal-title":"Hum Mutat"},{"key":"2425_CR5","doi-asserted-by":"publisher","first-page":"159","DOI":"10.1002\/humu.1","volume":"17","author":"A Rossi","year":"2001","unstructured":"Rossi A, Superti-Furga A: Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. Hum Mutat. 2001, 17: 159-171.","journal-title":"Hum Mutat"},{"key":"2425_CR6","doi-asserted-by":"publisher","first-page":"1280","DOI":"10.1002\/ajmg.a.31292","volume":"140","author":"T Itoh","year":"2006","unstructured":"Itoh T, Shirahama S, Nakashima E, Maeda K, Haga N, Kitoh H, Kosaki R, Ohashi H, Nishimura G, Ikegawa S: Comprehensive screening of multiple epiphyseal dysplasia mutations in Japanese population. Am J Med Genet A. 2006, 140: 1280-1284.","journal-title":"Am J Med Genet A"},{"key":"2425_CR7","doi-asserted-by":"publisher","first-page":"292","DOI":"10.1038\/sj.ejhg.5201314","volume":"13","author":"E Jakkula","year":"2005","unstructured":"Jakkula E, Makitie O, Czarny-Ratajczak M, Jackson GC, Damignani R, Susic M, Briggs MD, Cole WG, Ala-Kokko L: Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations. Eur J Hum Genet. 2005, 13: 292-301.","journal-title":"Eur J Hum Genet"},{"key":"2425_CR8","doi-asserted-by":"publisher","first-page":"2669","DOI":"10.1002\/ajmg.a.34246","volume":"155A","author":"OH Kim","year":"2011","unstructured":"Kim OH, Park H, Seong MW, Cho TJ, Nishimura G, Superti-Furga A, Unger S, Ikegawa S, Choi IH, Song HR, Kim HW, You WJ, Shim JS, Chung CY, Oh CW, Jeong C, Song KS, Seo SG, Cho SI, Yeo IK, Kim SY, Park S, Park SS: Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes. Am J Med Genet A. 2011, 155A: 2669-2680.","journal-title":"Am J Med Genet A"},{"key":"2425_CR9","doi-asserted-by":"publisher","first-page":"144","DOI":"10.1002\/humu.21611","volume":"33","author":"GC Jackson","year":"2012","unstructured":"Jackson GC, Mittaz-Crettol L, Taylor JA, Mortier GR, Spranger J, Zabel B, Le Merrer M, Cormier-Daire V, Hall CM, Offiah A, Wright MJ, Savarirayan R, Nishimura G, Ramsden SC, Elles R, Bonafe L, Superti-Furga A, Unger S, Zankl A, Briggs MD: Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. Hum Mutat. 2012, 33: 144-157.","journal-title":"Hum Mutat"},{"key":"2425_CR10","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1136\/jmg.40.1.65","volume":"40","author":"D Ballhausen","year":"2003","unstructured":"Ballhausen D, Bonafe L, Terhal P, Unger SL, Bellus G, Classen M, Hamel BC, Spranger J, Zabel B, Cohn DH, Cole WG, Hecht JT, Superti-Furga A: Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. J Med Genet. 2003, 40: 65-71.","journal-title":"J Med Genet"},{"key":"2425_CR11","doi-asserted-by":"publisher","first-page":"591","DOI":"10.1007\/s10067-005-0034-z","volume":"25","author":"M Takahashi","year":"2006","unstructured":"Takahashi M, Matsui Y, Goto T, Nishimura G, Ikegawa S, Ohashi H, Yasui N: Intrafamilial phenotypic diversity in multiple epiphyseal dysplasia associated with a COL9A2 mutation (EDM2). Clin Rheumatol. 2006, 25: 591-595.","journal-title":"Clin Rheumatol"},{"key":"2425_CR12","doi-asserted-by":"publisher","first-page":"278","DOI":"10.1002\/ajmg.a.20486","volume":"125A","author":"O Makitie","year":"2004","unstructured":"Makitie O, Mortier GR, Czarny-Ratajczak M, Wright MJ, Suri M, Rogala P, Freund M, Jackson GC, Jakkula E, Ala-Kokko L, Briggs MD, Cole WG: Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients. Am J Med Genet A. 2004, 125A: 278-284.","journal-title":"Am J Med Genet A"},{"key":"2425_CR13","doi-asserted-by":"publisher","first-page":"116","DOI":"10.1007\/s00247-004-1323-4","volume":"35","author":"RS Lachman","year":"2005","unstructured":"Lachman RS, Krakow D, Cohn DH, Rimoin DL: MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia. Pediatr Radiol. 2005, 35: 116-123.","journal-title":"Pediatr Radiol"},{"key":"2425_CR14","doi-asserted-by":"publisher","first-page":"144","DOI":"10.1002\/ajmg.10554","volume":"112","author":"J Fiedler","year":"2002","unstructured":"Fiedler J, Stove J, Heber F, Brenner RE: Clinical phenotype and molecular diagnosis of multiple epiphyseal dysplasia with relative hip sparing during childhood (EDM2). Am J Med Genet. 2002, 112: 144-153.","journal-title":"Am J Med Genet"},{"key":"2425_CR15","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1302\/0301-620X.43B2.268","volume":"43","author":"IK Sharp","year":"1961","unstructured":"Sharp IK: Acetabular dysplasia: the acetabular angle. J Bone Joint Surg Br. 1961, 43: 268-272.","journal-title":"J Bone Joint Surg Br"},{"key":"2425_CR16","first-page":"58","volume":"83","author":"G Wiberg","year":"1939","unstructured":"Wiberg G: Studies on dysplastic acetabula and congenital subluxation of the hip joint. Acta Chir Scand. 1939, 83: 58-","journal-title":"Acta Chir Scand"},{"key":"2425_CR17","doi-asserted-by":"crossref","first-page":"1095","DOI":"10.2106\/00004623-198163070-00006","volume":"63","author":"SD Stulberg","year":"1981","unstructured":"Stulberg SD, Cooperman DR, Wallensten R: The natural history of Legg-Calve-Perthes disease. J Bone Joint Surg Am. 1981, 63: 1095-1108.","journal-title":"J Bone Joint Surg Am"},{"key":"2425_CR18","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1302\/0301-620X.69B2.3818755","volume":"69","author":"E Ippolito","year":"1987","unstructured":"Ippolito E, Tudisco C, Farsetti P: The long-term prognosis of unilateral Perthes\u2019 disease. J Bone Joint Surg Br. 1987, 69: 243-250.","journal-title":"J Bone Joint Surg Br"},{"key":"2425_CR19","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1097\/00003086-198305000-00013","volume":"175","author":"DR Cooperman","year":"1983","unstructured":"Cooperman DR, Wallensten R, Stulberg SD: Acetabular dysplasia in the adult. Clin Orthop Relat Res. 1983, 175: 79-85.","journal-title":"Clin Orthop Relat Res"},{"key":"2425_CR20","doi-asserted-by":"publisher","first-page":"606","DOI":"10.1038\/sj.ejhg.5200690","volume":"9","author":"GR Mortier","year":"2001","unstructured":"Mortier GR, Chapman K, Leroy JL, Briggs MD: Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genes. Eur J Hum Genet. 2001, 9: 606-612.","journal-title":"Eur J Hum Genet"},{"key":"2425_CR21","doi-asserted-by":"publisher","first-page":"490","DOI":"10.1002\/ajmg.a.20034","volume":"120A","author":"AK Mostert","year":"2003","unstructured":"Mostert AK, Dijkstra PF, Jansen BR, van Horn JR, de Graaf B, Heutink P, Lindhout D: Familial multiple epiphyseal dysplasia due to a matrilin-3 mutation: further delineation of the phenotype including 40\u00a0years follow-up. Am J Med Genet A. 2003, 120A: 490-497.","journal-title":"Am J Med Genet A"},{"key":"2425_CR22","doi-asserted-by":"publisher","first-page":"439","DOI":"10.1002\/humu.9286","volume":"24","author":"A Mabuchi","year":"2004","unstructured":"Mabuchi A, Haga N, Maeda K, Nakashima E, Manabe N, Hiraoka H, Kitoh H, Kosaki R, Nishimura G, Ohashi H, Ikegawa S: Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia. Hum Mutat. 2004, 24: 439-440.","journal-title":"Hum Mutat"},{"key":"2425_CR23","doi-asserted-by":"publisher","first-page":"52","DOI":"10.1097\/BPO.0b013e3181901c4d","volume":"29","author":"TJ Cho","year":"2009","unstructured":"Cho TJ, Choi IH, Chung CY, Yoo WJ, Park MS, Lee DY: Hemiepiphyseal stapling for angular deformity correction around the knee joint in children with multiple epiphyseal dysplasia. J Pediatr Orthop. 2009, 29: 52-56.","journal-title":"J Pediatr Orthop"},{"key":"2425_CR24","doi-asserted-by":"publisher","first-page":"666","DOI":"10.1097\/01241398-198911000-00006","volume":"9","author":"WG Mackenzie","year":"1989","unstructured":"Mackenzie WG, Bassett GS, Mandell GA, Scott CI: Avascular necrosis of the hip in multiple epiphyseal dysplasia. J Pediatr Orthop. 1989, 9: 666-671.","journal-title":"J Pediatr Orthop"},{"key":"2425_CR25","doi-asserted-by":"publisher","first-page":"588","DOI":"10.1097\/BPO.0b013e3181e04b5d","volume":"30","author":"SJ Shin","year":"2010","unstructured":"Shin SJ, Cho TJ, Park MS, Bae JY, Yoo WJ, Chung CY, Choi IH: Angular deformity correction by asymmetrical physeal suppression in growing children: stapling versus percutaneous transphyseal screw. J Pediatr Orthop. 2010, 30: 588-593.","journal-title":"J Pediatr Orthop"}],"container-title":["BMC Musculoskeletal Disorders"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2474-15-84.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/1471-2474-15-84\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2474-15-84","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2474-15-84.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,3,30]],"date-time":"2022-03-30T00:16:37Z","timestamp":1648599397000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcmusculoskeletdisord.biomedcentral.com\/articles\/10.1186\/1471-2474-15-84"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,3,15]]},"references-count":25,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2014,12]]}},"alternative-id":["2425"],"URL":"https:\/\/doi.org\/10.1186\/1471-2474-15-84","relation":{},"ISSN":["1471-2474"],"issn-type":[{"value":"1471-2474","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,3,15]]},"assertion":[{"value":"5 November 2013","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 March 2014","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 March 2014","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"84"}}