{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T18:09:13Z","timestamp":1782583753256,"version":"3.54.5"},"reference-count":28,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":5356,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2001,11,22]]},"DOI":"10.1002\/ajmg.10062","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T05:13:57Z","timestamp":1030252437000},"page":"140-146","source":"Crossref","is-referenced-by-count":42,"title":["Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita"],"prefix":"10.1002","volume":"104","author":[{"given":"Sheila","family":"Unger","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jarmo","family":"Korkko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah","family":"Krakow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ralph S.","family":"Lachman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David L.","family":"Rimoin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel H.","family":"Cohn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2001]]},"reference":[{"key":"BIB1","doi-asserted-by":"crossref","first-page":"1454","DOI":"10.1001\/archopht.1995.01100110114034","volume":"113","author":"Ahmad","year":"1995","journal-title":"Arch Ophthalmol"},{"key":"BIB2","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1016\/0888-7543(90)90031-O","volume":"8","author":"Ala-Kokko","year":"1990","journal-title":"Genomics"},{"key":"BIB3","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1038\/ng0795-330","volume":"10","author":"Briggs","year":"1995","journal-title":"Nat Genet"},{"key":"BIB4","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1086\/301713","volume":"62","author":"Briggs","year":"1998","journal-title":"Am J Hum Genet"},{"key":"BIB5","doi-asserted-by":"crossref","first-page":"18226","DOI":"10.1016\/S0021-9258(17)46834-7","volume":"268","author":"Chessler","year":"1993b","journal-title":"J Biol Chem"},{"key":"BIB6","doi-asserted-by":"crossref","first-page":"18218","DOI":"10.1016\/S0021-9258(17)46833-5","volume":"268","author":"Chessler","year":"1993a","journal-title":"J Biol Chem"},{"key":"BIB7","doi-asserted-by":"crossref","first-page":"10325","DOI":"10.1073\/pnas.90.21.10325","volume":"90","author":"Ganguly","year":"1993","journal-title":"Proc Natl Acad Sci USA"},{"key":"BIB8","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1111\/j.1399-0004.1995.tb04051.x","volume":"48","author":"Gunthard","year":"1995","journal-title":"Clin Genet"},{"key":"BIB9","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1002\/ppul.1950090112","volume":"9","author":"Harding","year":"1990","journal-title":"Pediatr Pulmonol"},{"key":"BIB10","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1038\/ng0795-325","volume":"10","author":"Hecht","year":"1995","journal-title":"Nat Genet"},{"key":"BIB11","doi-asserted-by":"crossref","first-page":"6046","DOI":"10.1074\/jbc.M009507200","volume":"276","author":"Holden","year":"2001","journal-title":"J Biol Chem"},{"key":"BIB12","first-page":"316","volume":"136","author":"Horton","year":"1982","journal-title":"Am J Dis Child"},{"key":"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","volume":"79","author":"International Working Group on Constitutional Diseases of Bone","year":"1998","journal-title":"Am J Med Genet"},{"key":"BIB14","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1002\/ajmg.1320510302","volume":"51","author":"Kitoh","year":"1994","journal-title":"Am J Med Genet"},{"key":"BIB15","doi-asserted-by":"crossref","first-page":"1681","DOI":"10.1073\/pnas.95.4.1681","volume":"95","author":"Korkko","year":"1998","journal-title":"Proc Natl Acad Sci USA"},{"key":"BIB16","doi-asserted-by":"crossref","first-page":"8642","DOI":"10.1074\/jbc.270.15.8642","volume":"270","author":"Lamande","year":"1995","journal-title":"J Biol Chem"},{"key":"BIB17","doi-asserted-by":"crossref","first-page":"772","DOI":"10.1002\/ajmg.1320470535","volume":"47","author":"Langer","year":"1993","journal-title":"Am J Med Genet"},{"key":"BIB18","doi-asserted-by":"crossref","first-page":"978","DOI":"10.1126\/science.2543071","volume":"26","author":"Lee","year":"1989","journal-title":"Science"},{"key":"BIB19","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1002\/(SICI)1096-8628(19960517)63:2<406::AID-AJMG16>3.0.CO;2-O","volume":"63","author":"McKeand","year":"1996","journal-title":"Am J Med Genet"},{"key":"BIB20","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1136\/jmg.37.4.263","volume":"37","author":"Mortier","year":"2000","journal-title":"J Med Genet"},{"key":"BIB21","doi-asserted-by":"crossref","first-page":"999","DOI":"10.1002\/art.1780380717","volume":"38","author":"Ritvaniemi","year":"1995","journal-title":"Arth Rheum"},{"key":"BIB22","first-page":"56","volume":"153","author":"Spranger","year":"1994","journal-title":"Eur J Pediatr"},{"key":"BIB23","doi-asserted-by":"crossref","first-page":"6083","DOI":"10.1074\/jbc.M009512200","volume":"276","author":"Thur","year":"2001","journal-title":"J Biol Chem"},{"key":"BIB24","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1007\/BF00216458","volume":"92","author":"Williams","year":"1993","journal-title":"Hum Genet"},{"key":"BIB25","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1093\/hmg\/4.2.309","volume":"4","author":"Williams","year":"1995","journal-title":"Hum Mol Genet"},{"key":"BIB26","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1136\/jmg.31.7.565","volume":"31","author":"Woods","year":"1994","journal-title":"J Med Genet"},{"key":"BIB27","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1136\/jmg.29.11.831","volume":"29","author":"Young","year":"1992","journal-title":"J Med Genet"},{"key":"BIB28","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1002\/(SICI)1096-8628(19960503)63:1<123::AID-AJMG22>3.0.CO;2-P","volume":"63","author":"Zabel","year":"1996","journal-title":"Am J Med Genet"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.10062","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/ajmg.10062","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,4,3]],"date-time":"2023-04-03T04:51:21Z","timestamp":1680497481000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.10062"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001]]},"references-count":28,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2001,11,22]]}},"URL":"https:\/\/doi.org\/10.1002\/ajmg.10062","relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001]]}}}