{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,16]],"date-time":"2026-04-16T00:40:21Z","timestamp":1776300021837,"version":"3.50.1"},"reference-count":29,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2008,3,1]],"date-time":"2008-03-01T00:00:00Z","timestamp":1204329600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Best Practice &amp; Research Clinical Rheumatology"],"published-print":{"date-parts":[[2008,3]]},"DOI":"10.1016\/j.berh.2007.11.009","type":"journal-article","created":{"date-parts":[[2008,3,11]],"date-time":"2008-03-11T16:10:10Z","timestamp":1205251810000},"page":"19-32","source":"Crossref","is-referenced-by-count":66,"title":["Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis"],"prefix":"10.1016","volume":"22","author":[{"given":"Sheila","family":"Unger","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luisa","family":"Bonaf\u00e9","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Superti-Furga","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.berh.2007.11.009_bib1","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1136\/jmg.40.1.65","article-title":"Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W","volume":"40","author":"Ballhausen","year":"2003","journal-title":"Journal of Medical Genetics"},{"key":"10.1016\/j.berh.2007.11.009_bib2","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1097\/01241398-199805000-00023","article-title":"Stature and severity in multiple epiphyseal dysplasia","volume":"18","author":"Haga","year":"1998","journal-title":"Journal of Pediatric Orthopaedics"},{"key":"10.1016\/j.berh.2007.11.009_bib3","doi-asserted-by":"crossref","first-page":"942","DOI":"10.1136\/jmg.40.12.942","article-title":"A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations","volume":"40","author":"Jakkula","year":"2003","journal-title":"Journal of Medical Genetics"},{"key":"10.1016\/j.berh.2007.11.009_bib4","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1038\/sj.ejhg.5201314","article-title":"Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations","volume":"13","author":"Jakkula","year":"2005","journal-title":"European Journal of Human Genetics"},{"key":"10.1016\/j.berh.2007.11.009_bib5","doi-asserted-by":"crossref","first-page":"1280","DOI":"10.1002\/ajmg.a.31292","article-title":"Comprehensive screening of multiple epiphyseal dysplasia mutations in Japanese population","volume":"140","author":"Itoh","year":"2006","journal-title":"American Journal of Medical Genetics A"},{"key":"10.1016\/j.berh.2007.11.009_bib6","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1038\/sj.ejhg.5201744","article-title":"Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia","volume":"15","author":"Zankl","year":"2007","journal-title":"European Journal of Human Genetics"},{"key":"10.1016\/j.berh.2007.11.009_bib7","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1038\/ng0795-330","article-title":"Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene","volume":"10","author":"Briggs","year":"1995","journal-title":"Nature Genetics"},{"key":"10.1016\/j.berh.2007.11.009_bib8","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1002\/humu.10066","article-title":"Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations","volume":"19","author":"Briggs","year":"2002","journal-title":"Human Mutation"},{"key":"10.1016\/j.berh.2007.11.009_bib9","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1086\/301713","article-title":"Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum","volume":"62","author":"Briggs","year":"1998","journal-title":"American Journal of Human Genetics"},{"key":"10.1016\/j.berh.2007.11.009_bib10","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1002\/humu.9286","article-title":"Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia","volume":"24","author":"Mabuchi","year":"2004","journal-title":"Human Mutation"},{"key":"10.1016\/j.berh.2007.11.009_bib11","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1007\/BF00212015","article-title":"A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix","volume":"93","author":"Rimoin","year":"1994","journal-title":"Human Genetics"},{"key":"10.1016\/j.berh.2007.11.009_bib12","first-page":"621","article-title":"Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation","volume":"36","author":"Superti-Furga","year":"1999","journal-title":"Journal of Medical Genetics"},{"key":"10.1016\/j.berh.2007.11.009_bib13","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1002\/ajmg.a.30481","article-title":"Double-layered patella in multiple epiphyseal dysplasia is not exclusive to DTDST mutation","volume":"133","author":"Nakashima","year":"2005","journal-title":"American Journal of Medical Genetics"},{"key":"10.1016\/j.berh.2007.11.009_bib14","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1002\/humu.1152","article-title":"Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance","volume":"18","author":"Rossi","year":"2001","journal-title":"Human Mutation"},{"key":"10.1016\/j.berh.2007.11.009_bib15","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1136\/jmg.2003.013342","article-title":"Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD","volume":"41","author":"Borochowitz","year":"2004","journal-title":"Journal of Medical Genetics"},{"key":"10.1016\/j.berh.2007.11.009_bib16","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1038\/ng573","article-title":"Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia","volume":"28","author":"Chapman","year":"2001","journal-title":"Nature Genetics"},{"key":"10.1016\/j.berh.2007.11.009_bib17","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1002\/ajmg.a.20486","article-title":"Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients","volume":"125","author":"Makitie","year":"2004","journal-title":"American Journal of Medical Genetics"},{"key":"10.1016\/j.berh.2007.11.009_bib18","doi-asserted-by":"crossref","first-page":"606","DOI":"10.1038\/sj.ejhg.5200690","article-title":"Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genes","volume":"9","author":"Mortier","year":"2001","journal-title":"European Journal of Human Genetics"},{"key":"10.1016\/j.berh.2007.11.009_bib19","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/S0945-053X(98)00006-7","article-title":"The matrilins: a novel family of oligomeric extracellular matrix proteins","volume":"18","author":"Deak","year":"1999","journal-title":"Matrix Biology"},{"key":"10.1016\/j.berh.2007.11.009_bib20","first-page":"678","article-title":"Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene","volume":"55","author":"Briggs","year":"1994","journal-title":"American Journal of Human Genetics"},{"key":"10.1016\/j.berh.2007.11.009_bib21","doi-asserted-by":"crossref","first-page":"969","DOI":"10.1086\/324023","article-title":"A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity","volume":"69","author":"Czarny-Ratajczak","year":"2001","journal-title":"American Journal of Human Genetics"},{"key":"10.1016\/j.berh.2007.11.009_bib22","doi-asserted-by":"crossref","first-page":"1036","DOI":"10.1086\/302328","article-title":"COL9A3: a third locus for multiple epiphyseal dysplasia","volume":"64","author":"Paassilta","year":"1999","journal-title":"American Journal of Human Genetics"},{"key":"10.1016\/j.berh.2007.11.009_bib23","doi-asserted-by":"crossref","first-page":"1212","DOI":"10.1073\/pnas.97.3.1212","article-title":"A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy","volume":"97","author":"Bonnemann","year":"2000","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"key":"10.1016\/j.berh.2007.11.009_bib24","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1038\/ng0196-103","article-title":"A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2)","volume":"12","author":"Muragaki","year":"1996","journal-title":"Nature Genetics"},{"key":"10.1016\/j.berh.2007.11.009_bib25","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1007\/s10067-005-0034-z","article-title":"Intrafamilial phenotypic diversity in multiple epiphyseal dysplasia associated with a COL9A2 mutation (EDM2)","volume":"25","author":"Takahashi","year":"2006","journal-title":"Clinical Rheumatology"},{"key":"10.1016\/j.berh.2007.11.009_bib26","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1007\/s002470000362","article-title":"Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype","volume":"31","author":"Unger","year":"2001","journal-title":"Pediatric Radiology"},{"key":"10.1016\/j.berh.2007.11.009_bib27","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1086\/302440","article-title":"Identification of novel pro-alpha2(iX) collagen gene mutations in two families with distinctive oligoepiphyseal forms of multiple epiphyseal dysplasia","volume":"65","author":"Holden","year":"1999","journal-title":"American Journal of Human Genetics"},{"key":"10.1016\/j.berh.2007.11.009_bib28","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1016\/S0945-053X(98)90063-4","article-title":"Human COL9A1 and COL9A2 genes. Two genes of 90\u00a0and 15 kb code for similar polypeptides of the same collagen molecule","volume":"17","author":"Pihlajamaa","year":"1998","journal-title":"Matrix Biology"},{"key":"10.1016\/j.berh.2007.11.009_bib29","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1002\/(SICI)1096-8628(20000131)90:3<216::AID-AJMG6>3.0.CO;2-1","article-title":"Splicing mutations in the COL3 domain of collagen IX cause multiple epiphyseal dysplasia","volume":"90","author":"Lohiniva","year":"2000","journal-title":"American Journal of Medical Genetics"}],"container-title":["Best Practice &amp; Research Clinical Rheumatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521694207001337?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521694207001337?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,12,31]],"date-time":"2018-12-31T04:22:34Z","timestamp":1546230154000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1521694207001337"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,3]]},"references-count":29,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2008,3]]}},"alternative-id":["S1521694207001337"],"URL":"https:\/\/doi.org\/10.1016\/j.berh.2007.11.009","relation":{},"ISSN":["1521-6942"],"issn-type":[{"value":"1521-6942","type":"print"}],"subject":[],"published":{"date-parts":[[2008,3]]}}}