{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T22:51:24Z","timestamp":1780354284311,"version":"3.54.1"},"reference-count":14,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":3895,"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":[[2005,8,1]]},"DOI":"10.1002\/ajmg.a.30570","type":"journal-article","created":{"date-parts":[[2005,7,6]],"date-time":"2005-07-06T23:28:12Z","timestamp":1120692492000},"page":"307-312","source":"Crossref","is-referenced-by-count":15,"title":["X-linked dominant chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia"],"prefix":"10.1002","volume":"136A","author":[{"given":"Nicolas","family":"Chassaing","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginie","family":"Siani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Carles","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne Lise","family":"Delezoide","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eve Marie","family":"Alberti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacques","family":"Battin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean Fran\u00e7ois","family":"Chateil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brigitte","family":"Gilbert-Dussardier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Coupry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benoit","family":"Arveiler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Saura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Didier","family":"Lacombe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005]]},"reference":[{"key":"10.1002\/ajmg.a.30570-BIB1","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1002\/ajmg.1320490321","volume":"49","author":"Beemer","year":"1994","journal-title":"Am J Med Genet"},{"key":"10.1002\/ajmg.a.30570-BIB2","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1016\/S0022-3476(88)80113-6","volume":"112","author":"Borochowitz","year":"1988","journal-title":"J Pediatr"},{"key":"10.1002\/ajmg.a.30570-BIB3","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1002\/(SICI)1096-8628(19990611)84:5<476::AID-AJMG12>3.0.CO;2-X","volume":"84","author":"Brodie","year":"1999","journal-title":"Am J Med Genet"},{"key":"10.1002\/ajmg.a.30570-BIB4","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1136\/jmg.31.5.371","volume":"31","author":"Camera","year":"1994","journal-title":"J Med Genet"},{"key":"10.1002\/ajmg.a.30570-BIB5","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1159\/000248418","volume":"178","author":"De Raeve","year":"1989","journal-title":"Dermatologica"},{"key":"10.1002\/ajmg.a.30570-BIB6","first-page":"894","volume":"43","author":"Godfrey","year":"1988","journal-title":"Am J Hum Genet"},{"key":"10.1002\/ajmg.a.30570-BIB7","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1002\/(SICI)1096-8628(20000515)92:2<95::AID-AJMG3>3.0.CO;2-9","volume":"92","author":"Korkko","year":"2000","journal-title":"Am J Med Genet"},{"key":"10.1002\/ajmg.a.30570-BIB8","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1111\/j.1399-0004.1980.tb00115.x","volume":"17","author":"Manzke","year":"1980","journal-title":"Clin Genet"},{"key":"10.1002\/ajmg.a.30570-BIB9","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1002\/ajmg.1320190117","volume":"19","author":"Maroteaux","year":"1984","journal-title":"Am J Med Genet"},{"key":"10.1002\/ajmg.a.30570-BIB10","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1136\/jmg.2003.013722","volume":"41","author":"Nishimura","year":"2004","journal-title":"J Med Genet"},{"key":"10.1002\/ajmg.a.30570-BIB11","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1002\/humu.1","volume":"17","author":"Rossi","year":"2001","journal-title":"Hum Mutat"},{"key":"10.1002\/ajmg.a.30570-BIB12","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1093\/hmg\/5.4.509","volume":"5","author":"Rousseau","year":"1996","journal-title":"Hum Mol Genet"},{"key":"10.1002\/ajmg.a.30570-BIB13","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1007\/s002470050154","volume":"27","author":"Sillence","year":"1997","journal-title":"Pediatr Radiol"},{"key":"10.1002\/ajmg.a.30570-BIB14","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1038\/ng0395-321","volume":"9","author":"Tavormina","year":"1995","journal-title":"Nat Genet"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.30570","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/ajmg.a.30570","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,6,30]],"date-time":"2021-06-30T19:53:36Z","timestamp":1625082816000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30570"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005]]},"references-count":14,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2005,8,1]]}},"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30570","relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005]]}}}