{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T03:12:22Z","timestamp":1771038742052,"version":"3.50.1"},"reference-count":14,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2002,10,1]],"date-time":"2002-10-01T00:00:00Z","timestamp":1033430400000},"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":3944,"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":[[2002,10]]},"DOI":"10.1086\/342669","type":"journal-article","created":{"date-parts":[[2002,10,8]],"date-time":"2002-10-08T20:15:19Z","timestamp":1034108119000},"page":"947-951","source":"Crossref","is-referenced-by-count":24,"title":["Evidence That Smith-McCort Dysplasia and Dyggve-Melchior-Clausen Dysplasia Are Allelic Disorders That Result from Mutations in a Gene on Chromosome 18q12"],"prefix":"10.1016","volume":"71","author":[{"given":"Nadia","family":"Ehtesham","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rita M.","family":"Cantor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lily M.","family":"King","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kent","family":"Reinker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Berkley R.","family":"Powell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alan","family":"Shanske","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sheila","family":"Unger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David L.","family":"Rimoin","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\/342669_bib6","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1136\/jmg.27.8.512","article-title":"Dyggve-Melchior-Clausen syndrome","volume":"27","author":"Beighton","year":"1990","journal-title":"J Med Genet"},{"key":"10.1086\/342669_bib7","unstructured":"Burns C, Powell BR, Hsia YE, Reinker K. Dyggve-Melchior-Clausen syndrome: report of 7 patients and review of the literature. J Pediatr Orthop (in press)"},{"key":"10.1086\/342669_bib8","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1136\/adc.37.195.525","article-title":"Morquio-Ullrich's disease: an inborn error of metabolism?","volume":"37","author":"Dyggve","year":"1962","journal-title":"Arch Dis Child"},{"key":"10.1086\/342669_bib9","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1111\/j.1651-2227.1983.tb09710.x","article-title":"Dyggve-Melchior-Clausen dysplasia: morphological and biochemical findings in cartilage growth zones","volume":"72","author":"Engfeldt","year":"1983","journal-title":"Acta Paediatr Scand"},{"key":"10.1086\/342669_bib10","doi-asserted-by":"crossref","first-page":"4728","DOI":"10.1210\/endo.141.12.7848","article-title":"Smad2 and 3 mediate transforming growth factor-\u03b21-induced inhibition of chondrocyte maturation","volume":"141","author":"Ferguson","year":"2000","journal-title":"Endocrinology"},{"key":"10.1086\/342669_bib11","doi-asserted-by":"crossref","first-page":"3801","DOI":"10.1091\/mbc.10.11.3801","article-title":"Roles of bone morphogenetic protein type I receptors and Smad proteins in osteoblast and chondroblast differentiation","volume":"10","author":"Fujii","year":"1999","journal-title":"Mol Biol Cell"},{"key":"10.1086\/342669_bib12","doi-asserted-by":"crossref","first-page":"408","DOI":"10.2106\/00004623-198264030-00011","article-title":"Dyggve-Melchior-Clausen syndrome: a histochemical study of the growth plate","volume":"64","author":"Horton","year":"1982","journal-title":"J Bone Joint Surg Am"},{"key":"10.1086\/342669_bib13","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1002\/(SICI)1096-8628(19981012)79:5<376::AID-AJMG9>3.0.CO;2-H","article-title":"International nomenclature and classification of the osteochondrodysplasias (1997)","volume":"79","author":"International Working Group on Constitutional Diseases of Bone","year":"1998","journal-title":"Am J Med Genet"},{"key":"10.1086\/342669_bib14","first-page":"144","article-title":"The Dyggve-Melchior-Clausen syndrome","volume":"7","author":"Kaufman","year":"1971","journal-title":"Birth Defects Orig Artic Ser"},{"key":"10.1086\/342669_bib15","first-page":"A504","article-title":"Mendel version 4.0: a complete package for the exact analysis of discrete traits in pedigree and population data sets","volume":"69","author":"Lange","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1086\/342669_bib16","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1002\/(SICI)1096-8628(19971003)72:1<11::AID-AJMG3>3.0.CO;2-Y","article-title":"Dyggve-Melchior-Clausen syndrome without mental retardation (Smith-McCort dysplasia): morphological findings in the growth plate of the iliac crest","volume":"72","author":"Nakamura","year":"1997","journal-title":"Am J Med Genet"},{"key":"10.1086\/342669_bib17","first-page":"55","article-title":"Osteochondrodystrophy (Morquio-Brailsford type): occurrence in three siblings","volume":"88","author":"Smith","year":"1958","journal-title":"Calif Med"},{"key":"10.1086\/342669_bib18","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1007\/BF00286853","article-title":"Heterogeneity of Dyggve-Melchior-Clausen dwarfism","volume":"33","author":"Spranger","year":"1976","journal-title":"Hum Genet"},{"key":"10.1086\/342669_bib19","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1093\/carcin\/19.5.803","article-title":"Mutation analysis of the Smad2 gene in human colon cancers using genomic DNA and intron primers","volume":"19","author":"Takenoshita","year":"1998","journal-title":"Carcinogenesis"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707603784?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707603784?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,4,8]],"date-time":"2019-04-08T17:26:16Z","timestamp":1554744376000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707603784"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,10]]},"references-count":14,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2002,10]]}},"alternative-id":["S0002929707603784"],"URL":"https:\/\/doi.org\/10.1086\/342669","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2002,10]]}}}