{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T16:36:59Z","timestamp":1787503019615,"version":"build-2736575974"},"reference-count":6,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2005,7,1]],"date-time":"2005-07-01T00:00:00Z","timestamp":1120176000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Oral Pathology Medicine"],"published-print":{"date-parts":[[2005,8]]},"abstract":"<jats:p>The follow\u2010up history and oral findings in two brothers from consanguineous parents suggest that the association of dentinogenesis imperfecta (DI), delayed tooth eruption, mild mental retardation, proportionate short stature, sensorineural hearing loss and dysmorphic facies may represent a new syndrome with autosomal recessive inheritance. Histological examination of the dentin matrix of a permanent molar from one of the siblings reveals morphological similarities with defective dentinogenesis as presenting in patients affected with Osteogenesis Imperfecta (OI), a condition caused by deficiency of type I collagen. A number of radiographic and histological characteristics, however, are inconsistent with classical features of DI. These findings suggest that DI may imply greater genetical heterogeneity than currently assumed.<\/jats:p>","DOI":"10.1111\/j.1600-0714.2005.00318.x","type":"journal-article","created":{"date-parts":[[2005,7,1]],"date-time":"2005-07-01T13:55:23Z","timestamp":1120226123000},"page":"444-446","source":"Crossref","is-referenced-by-count":14,"title":["Dentinogenesis imperfecta associated with short stature, hearing loss and mental retardation: a new syndrome with autosomal recessive inheritance?"],"prefix":"10.1111","volume":"34","author":[{"given":"R. G. E. C.","family":"Cauwels","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P. J.","family":"De Coster","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G. R.","family":"Mortier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L. A. M.","family":"Marks","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L. C.","family":"Martens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,7]]},"reference":[{"key":"e_1_2_3_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990219)82:5<423::AID-AJMG12>3.0.CO;2-C"},{"key":"e_1_2_3_3_2","first-page":"277","article-title":"Clinical outcomes of consanguineous marriages in Turkey","volume":"43","author":"Tuncbilek E","year":"2001","journal-title":"Turk J Pediatr"},{"key":"e_1_2_3_4_2","first-page":"133","article-title":"Parental consanguinity as a cause for increased incidence of births defects in a study of 238,942 consecutive births","volume":"42","author":"Stoll C","year":"1999","journal-title":"Ann Genet"},{"key":"e_1_2_3_5_2","first-page":"305","article-title":"Dental manifestations of inbreeding","volume":"19","author":"Maatouk F","year":"1995","journal-title":"J Clin Pediatr Dent"},{"key":"e_1_2_3_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10031"},{"key":"e_1_2_3_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320450209"}],"container-title":["Journal of Oral Pathology &amp; Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1600-0714.2005.00318.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1600-0714.2005.00318.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,14]],"date-time":"2023-10-14T02:43:21Z","timestamp":1697251401000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1600-0714.2005.00318.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,7]]},"references-count":6,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2005,8]]}},"alternative-id":["10.1111\/j.1600-0714.2005.00318.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1600-0714.2005.00318.x","archive":["Portico"],"relation":{},"ISSN":["0904-2512","1600-0714"],"issn-type":[{"value":"0904-2512","type":"print"},{"value":"1600-0714","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,7]]}}}