{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T04:09:09Z","timestamp":1792382949079,"version":"4.4.0"},"reference-count":6,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":5024,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1991,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We present the history and data on a 24\u2010year\u2010old man with clinical and neurological symptoms similar to the findings in patients with late\u2010onset Cockayne syndrome.<\/jats:p><jats:p>Prometaphase chromosome studies documented an interstitial 10q211 deletion in all cells. This finding may indicate that the gene for late Cockayne syndrome is at 10q211.<\/jats:p>","DOI":"10.1002\/ajmg.1320400320","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T04:24:13Z","timestamp":1118550253000},"page":"343-344","source":"Crossref","is-referenced-by-count":15,"title":["Apparent late\u2010onset Cockayne syndrome and interstitial deletion of the long arm of chromosome 10 (del(10)(q11.23q21.2))"],"prefix":"10.1002","volume":"40","author":[{"given":"J. P.","family":"Fryns","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Bulcke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Verdu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Carton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Kleczkowska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"van den Berghe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12541383"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.11.61.1"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291378"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4684-7956-0_43"},{"key":"e_1_2_1_6_1","volume-title":"Mendelian Inheritance in Man. Catalogs of Autosomal Dominat, Autosomal Recessive, and X\u2010linked Phenotypes","author":"McKusick VA","year":"1988"},{"key":"e_1_2_1_7_1","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1542\/peds.60.2.135","article-title":"Cockayne syndrome: A cellular sensitivity to ultraviolet light","volume":"60","author":"Schmickel RD","year":"1977","journal-title":"Pediatrics"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320400320","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320400320","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T21:34:50Z","timestamp":1698010490000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320400320"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,9]]},"references-count":6,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1991,9]]}},"alternative-id":["10.1002\/ajmg.1320400320"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320400320","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,9]]}}}