{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T12:00:34Z","timestamp":1791892834420,"version":"4.3.4"},"reference-count":11,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,5,16]],"date-time":"2005-05-16T00:00:00Z","timestamp":1116201600000},"content-version":"vor","delay-in-days":3787,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1995,1,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a 5\u2010year\u2010old Japanese boy who has some radiographic findings characteristic of asphyxiating thoracic dystrophy (ATD)\u2010chondroectodermal dysplasia with a de novo chromosome abnormality. He also has mild mental retardation, short stature, hypoplastic hair and skin, oligodontia, small thoracic cage, hypoplastic pelvis and cone\u2010shaped epiphyses of hands. On cytogenetic studies he was found to have a de novo del(12)(p11.21p12.2). These results suggest that the locus of the gene associated with ATD\u2010chondroectodermal dysplasia may be situated at 12p11.21p12.2. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320550106","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:53:19Z","timestamp":1118512399000},"page":"16-18","source":"Crossref","is-referenced-by-count":33,"title":["Del(12)(p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia\u2010like syndrome"],"prefix":"10.1002","volume":"55","author":[{"given":"Toshiro","family":"Nagai","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gen","family":"Nishimura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rumiko","family":"Kato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomonobu","family":"Hasegawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirofumi","family":"Ohashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshimitu","family":"Fukushima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,5,16]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00973998"},{"key":"e_1_2_1_3_1","first-page":"93","article-title":"The Jeune spectrum of the asphyxiating thoracic dysplasia","volume":"8","author":"Friedman JM","year":"1975","journal-title":"Pediatr Radiol"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(75)90472-6"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350227"},{"key":"e_1_2_1_6_1","first-page":"192","article-title":"The thoracic asphyxiant dystrophy and renal disease","volume":"16","author":"Herdman RC","year":"1968","journal-title":"Am J Dis Childh"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00988659"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1673.1972.tb01390.x"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1148\/91.3.447"},{"key":"e_1_2_1_10_1","first-page":"332","article-title":"La dystrophie thoracique asphyxiante. Etude radiologique et rapport avec le syndrome d'Ellis et van Creveld","volume":"7","author":"Maroteaux P","year":"1964","journal-title":"Ann Radiol"},{"key":"e_1_2_1_11_1","first-page":"1235","volume-title":"Mendelian Inheritance in Man, Catalogs of Autosomal Dominant, Autosomal Recessive, and X\u2010Linked Phenotypes","author":"McKusick VA","year":"1992"},{"key":"e_1_2_1_12_1","first-page":"701","volume-title":"Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasia","author":"Taybi H","year":"1990"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320550106","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320550106","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T19:08:27Z","timestamp":1698260907000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320550106"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,1,2]]},"references-count":11,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1995,1,2]]}},"alternative-id":["10.1002\/ajmg.1320550106"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320550106","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,1,2]]}}}