{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,3,27]],"date-time":"2024-03-27T14:35:22Z","timestamp":1711550122977},"reference-count":9,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4420,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a patient with agenesis of corpus callosum, mental retardation, and unusual hitherto undescribed bone changes. The latter include multiple Wormian bones, thin ribs, short, straight, laterally tapering clavicles, small iliac bodies, high iliac angles, triangular areas of sclerosis in the iliac bones, minimal metaphyseal irregularity, striated trabecular pattern in some metaphyses, granular ossification pattern of the patellae, hypoplastic distal phalanges, minimal flatness of phalangeal epiphyses, and retarded bone age. This patient represents a new mental retardation syndrome with agenesis of corpus callosum and unusual bone changes. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320480104","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:50:50Z","timestamp":1118508650000},"page":"6-9","source":"Crossref","is-referenced-by-count":7,"title":["Agenesis of the corpus callosum with mental retardation and osseous lesions"],"prefix":"10.1002","volume":"48","author":[{"given":"Dr K.","family":"Kozlowski","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. A.","family":"Ouvrier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"493","article-title":"Anomalies of the corpus callosum: Correlation with further anomalies of the brain","volume":"9","author":"Barkovich AJ","year":"1988","journal-title":"AJNR"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320410417"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320405"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320400212"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02026715"},{"key":"e_1_2_1_7_1","volume-title":"Syndromes of the Head and Neck","author":"Gorlin RJ","year":"1990"},{"key":"e_1_2_1_8_1","unstructured":"KozlowskiK DonovanT MaselJ WrightRG(1992): Microcephalic osteodysplastic primordial dwarfism.Austr Radiol(in press)."},{"key":"e_1_2_1_9_1","first-page":"417","article-title":"Hypoplasie cerebelleuse congenitale avec lesions osseuses","volume":"33","author":"Stoll C","year":"1986","journal-title":"Ann Pediatr (Paris)"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320410206"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320480104","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320480104","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T18:51:59Z","timestamp":1698173519000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320480104"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,5]]},"references-count":9,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1993,5]]}},"alternative-id":["10.1002\/ajmg.1320480104"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320480104","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,5]]}}}