{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,17]],"date-time":"2026-01-17T10:45:18Z","timestamp":1768646718441,"version":"3.49.0"},"reference-count":33,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[1998,2,1]],"date-time":"1998-02-01T00:00:00Z","timestamp":886291200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":5647,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[1998,2]]},"DOI":"10.1086\/301713","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T18:45:21Z","timestamp":1027709121000},"page":"311-319","source":"Crossref","is-referenced-by-count":143,"title":["Diverse Mutations in the Gene for Cartilage Oligomeric Matrix Protein in the Pseudoachondroplasia\u2013Multiple Epiphyseal Dysplasia Disease Spectrum"],"prefix":"10.1016","volume":"62","author":[{"given":"Michael D.","family":"Briggs","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Geert R.","family":"Mortier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William G.","family":"Cole","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lily M.","family":"King","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steven S.","family":"Golik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacky","family":"Bonaventure","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lieve","family":"Nuytinck","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"De Paepe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jules G.","family":"Leroy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leslie","family":"Biesecker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark","family":"Lipson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William R.","family":"Wilcox","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ralph S.","family":"Lachman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David L.","family":"Rimoin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert G.","family":"Knowlton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel H.","family":"Cohn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1086\/301713_bib1","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1146\/annurev.ge.29.120195.003415","article-title":"Trinucleotide repeat expansions and human diseases","volume":"29","author":"Ashley","year":"1996","journal-title":"Annu Rev Genet"},{"key":"10.1086\/301713_bib2","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1002\/(SICI)1096-8628(19970211)68:4<396::AID-AJMG4>3.0.CO;2-K","article-title":"Multiple epiphyseal dysplasia, Ribbing type: a novel point mutation in the COMP gene in a South African family","volume":"68","author":"Ballo","year":"1997","journal-title":"Am J Med Genet"},{"key":"10.1086\/301713_bib4","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":"Am J Hum Genet"},{"key":"10.1086\/301713_bib5","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":"Nat Genet"},{"key":"10.1086\/301713_bib3","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1016\/S0888-7543(05)80369-6","article-title":"Genetic linkage of pseudoachondroplasia to markers in the pericentromeric region of chromosome 19","volume":"18","author":"Briggs","year":"1993","journal-title":"Genomics"},{"key":"10.1086\/301713_bib6","unstructured":"Briggs MD, Rimoin DL, Biesecker LG, Lipson MH, Bonaventure J, Lachman RS, Cohn DH (1995b) Genetic evidence for a third multiple epiphyseal dysplasia locus. Second Annual Meeting of the American College of Medical Genetics, Los Angeles, March 6\u20139, 1995 (abstract)"},{"key":"10.1086\/301713_bib7","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1111\/j.1749-6632.1996.tb56258.x","article-title":"Mutations in the cartilage oligomeric matrix protein (COMP) gene in pseudoachondroplasia and multiple epiphyseal dysplasia","volume":"785","author":"Cohn","year":"1996","journal-title":"Ann N Y Acad Sci"},{"key":"10.1086\/301713_bib8","first-page":"698","article-title":"Genetic heterogeneity in multiple epiphyseal dysplasia","volume":"56","author":"Deere","year":"1995","journal-title":"Am J Hum Genet"},{"key":"10.1086\/301713_bib9","doi-asserted-by":"crossref","first-page":"927","DOI":"10.1111\/j.1432-1033.1994.tb19070.x","article-title":"Cartilage oligomeric matrix protein and thrombospondin 1: purification from articular cartilage, electron microscopic structure and chondrocyte binding","volume":"223","author":"DiCesare","year":"1994","journal-title":"Eur J Biochem"},{"key":"10.1086\/301713_bib10","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1002\/bjs.18003413502","article-title":"Dysplasia epiphysialis multiplex","volume":"34","author":"Fairbank","year":"1947","journal-title":"Br J Surg"},{"key":"10.1086\/301713_bib11","doi-asserted-by":"crossref","first-page":"29650","DOI":"10.1016\/S0021-9258(18)43930-0","article-title":"Identification of a receptor candidate for the carboxyl-terminal cell binding domain of thrombospondins","volume":"269","author":"Gao","year":"1994","journal-title":"J Biol Chem"},{"key":"10.1086\/301713_bib12","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1074\/jbc.271.1.21","article-title":"Integrin-associated protein is a receptor for the C-terminal domain of thrombospondin","volume":"271","author":"Gao","year":"1996","journal-title":"J Biol Chem"},{"key":"10.1086\/301713_bib13","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1016\/S0888-7543(05)80370-2","article-title":"Linkage of typical pseudoachondroplasia to chromosome 19","volume":"18","author":"Hecht","year":"1993","journal-title":"Genomics"},{"key":"10.1086\/301713_bib14","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1038\/ng0795-325","article-title":"Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia","volume":"10","author":"Hecht","year":"1995","journal-title":"Nat Genet"},{"key":"10.1086\/301713_bib15","doi-asserted-by":"crossref","first-page":"6132","DOI":"10.1016\/S0021-9258(18)42671-3","article-title":"Cartilage matrix proteins: an acidic oligomeric protein (COMP) detected only in cartilage","volume":"267","author":"Hedbom","year":"1992","journal-title":"J Biol Chem"},{"key":"10.1086\/301713_bib16","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1002\/ajmg.1320440220","article-title":"International classification of osteochondrodysplasias","volume":"44","author":"International Working Group on Constitutional Diseases of Bone","year":"1992","journal-title":"Am J Med Genet"},{"key":"10.1086\/301713_bib17","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1016\/0092-8674(90)90250-I","article-title":"Mutations in paramecium calmodulin indicate functional differences between the C-terminal and N-terminal lobes in vitro","volume":"62","author":"Kink","year":"1990","journal-title":"Cell"},{"key":"10.1086\/301713_bib18","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1038\/365207a0","article-title":"Slippery DNA and diseases","volume":"365","author":"Kunkel","year":"1993","journal-title":"Nature"},{"issue":"Suppl 11","key":"10.1086\/301713_bib19","first-page":"S8","article-title":"Identification of five novel mutations in the cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia","author":"Loughlin","year":"1998","journal-title":"Hum Mutat"},{"key":"10.1086\/301713_bib20","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1007\/BF00496081","article-title":"The mild form of pseudoachondroplasia","volume":"133","author":"Maroteaux","year":"1980","journal-title":"Eur J Pediatr"},{"key":"10.1086\/301713_bib21","first-page":"40","article-title":"A unique rough surfaced endoplasmic reticulum inclusion in pseudoachondroplasia","volume":"26","author":"Maynard","year":"1972","journal-title":"Lab Invest"},{"key":"10.1086\/301713_bib22","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1038\/ng0196-103","article-title":"A mutation in the gene encoding the \u03b12 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2)","volume":"12","author":"Muragaki","year":"1996","journal-title":"Nat Genet"},{"key":"10.1086\/301713_bib23","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1006\/geno.1994.1649","article-title":"Characterization of human and mouse cartilage oligomeric matrix protein","volume":"24","author":"Newton","year":"1994","journal-title":"Genomics"},{"key":"10.1086\/301713_bib24","first-page":"3","article-title":"Genetic linkage mapping of multiple epiphyseal dysplasia to the pericentromeric region of chromosome 19","volume":"54","author":"Oehlmann","year":"1994","journal-title":"Am J Hum Genet"},{"key":"10.1086\/301713_bib25","doi-asserted-by":"crossref","first-page":"22346","DOI":"10.1016\/S0021-9258(18)41677-8","article-title":"COMP (cartilage oligomeric matrix protein) is structurally related to the thrombospondins","volume":"267","author":"Oldberg","year":"1992","journal-title":"J Biol Chem"},{"issue":"Suppl 34","key":"10.1086\/301713_bib26","first-page":"1","article-title":"Studien uber hereditare multiple Epiphysenstorungen","author":"Ribbing","year":"1937","journal-title":"Acta Radiol"},{"key":"10.1086\/301713_bib27","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 loci that encode proteins of the cartilage extracellular matrix","volume":"93","author":"Rimoin","year":"1994","journal-title":"Hum Genet"},{"key":"10.1086\/301713_bib30","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1002\/ajmg.1320450420","article-title":"Multiple epiphyseal dysplasia, Fairbank type: morphologic and biochemical study of cartilage","volume":"45","author":"Stanescu","year":"1993","journal-title":"Am J Med Genet"},{"key":"10.1086\/301713_bib29","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1007\/BF00441206","article-title":"The biochemical defect of pseudoachondroplasia","volume":"138","author":"Stanescu","year":"1982","journal-title":"Eur J Pediatr"},{"issue":"Suppl 34","key":"10.1086\/301713_bib28","first-page":"1","article-title":"Etude morphologique et biochimique du cartilage de croissance dans les osteochondrodysplasies","author":"Stanescu","year":"1977","journal-title":"Arch Fr Pediatr"},{"key":"10.1086\/301713_bib31","first-page":"3996","article-title":"Establishment of a clonal human chondrosarcoma cell line with cartilage phenotypes","volume":"49","author":"Takigawa","year":"1989","journal-title":"Cancer Res"},{"key":"10.1086\/301713_bib33","doi-asserted-by":"crossref","first-page":"23747","DOI":"10.1074\/jbc.270.40.23747","article-title":"Thrombospondin mediates calcium mobilization in fibroblasts via its Arg-Gly-Asp and carboxyl-terminal domains","volume":"270","author":"Tsao","year":"1995","journal-title":"J Biol Chem"},{"key":"10.1086\/301713_bib34","doi-asserted-by":"crossref","first-page":"993","DOI":"10.1242\/jcs.107.4.993","article-title":"Conformation dependence of integrin\u2013type II collagen binding","volume":"107","author":"Tuckwell","year":"1994","journal-title":"J Cell Sci"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000292970763496X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000292970763496X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,5,17]],"date-time":"2021-05-17T06:19:08Z","timestamp":1621232348000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S000292970763496X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,2]]},"references-count":33,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1998,2]]}},"alternative-id":["S000292970763496X"],"URL":"https:\/\/doi.org\/10.1086\/301713","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[1998,2]]}}}