{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T03:39:56Z","timestamp":1773286796682,"version":"3.50.1"},"reference-count":8,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2012,11,27]],"date-time":"2012-11-27T00:00:00Z","timestamp":1353974400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Invest &amp; Clin Dent"],"published-print":{"date-parts":[[2013,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>This study sought to perform mutational analysis of the <jats:styled-content style=\"fixed-case\">RUNX<\/jats:styled-content>2 gene in an 8\u2010year\u2010old girl with a diagnosis of cleidocranial dysplasia (<jats:styled-content style=\"fixed-case\">CCD<\/jats:styled-content>) without supernumerary teeth (proband) and her parents, plus in age and gender matched control subjects.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Ethical approval and informed consent was obtained for this study. Blood samples were obtained and the isolated <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> was used to amplify exons 0\u20137 of the <jats:styled-content style=\"fixed-case\">RUNX<\/jats:styled-content>2 gene using specific primers, which was subsequently sequenced.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>No mutations were identified in the coding regions of the <jats:styled-content style=\"fixed-case\">RUNX<\/jats:styled-content>2 gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The absence of supernumerary teeth in this individual with <jats:styled-content style=\"fixed-case\">CCD<\/jats:styled-content> demonstrates that there are variations in the phenotypes and mere absence of mutations does not imply that <jats:styled-content style=\"fixed-case\">CCD<\/jats:styled-content> phenotype is not governed by <jats:styled-content style=\"fixed-case\">RUNX<\/jats:styled-content>2 gene as only two\u2010thirds of the individuals exhibiting a <jats:styled-content style=\"fixed-case\">CCD<\/jats:styled-content> phenotype would reveal a <jats:styled-content style=\"fixed-case\">RUNX<\/jats:styled-content>2 mutation; therefore, the influence of copy number variations including large insertions, intragenic deletions, duplications, and inversions of genes cannot be excluded completely.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jicd.12019","type":"journal-article","created":{"date-parts":[[2012,11,27]],"date-time":"2012-11-27T22:38:57Z","timestamp":1354055937000},"page":"124-127","source":"Crossref","is-referenced-by-count":4,"title":["<scp>RUNX<\/scp>2 gene status in a cleidocranial dysplasia patient without supernumerary teeth"],"prefix":"10.1111","volume":"4","author":[{"given":"Robert P.","family":"Anthonappa","sequence":"first","affiliation":[{"name":"Paediatric Dentistry School of Dentistry The University of Western Australia Perth Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nigel M.","family":"King","sequence":"additional","affiliation":[{"name":"Paediatric Dentistry School of Dentistry The University of Western Australia Perth Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abou\u2010Bakr","family":"Mahmoud Rabie","sequence":"additional","affiliation":[{"name":"Private Practice Hong Kong SAR China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,11,27]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80260-3"},{"key":"e_1_2_7_3_1","first-page":"117","article-title":"Cleidocranial dysplasia: etiology and stomatognathic and craniofacial abnormalities","volume":"59","author":"D'Alessandro G","year":"2010","journal-title":"Minerva Stomatol"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-263X.1994.tb00139.x"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10043"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1079-9796(03)00020-2"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30927"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-0825.2009.01623.x"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21298"}],"container-title":["Journal of Investigative and Clinical Dentistry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fjicd.12019","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fjicd.12019","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jicd.12019","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,15]],"date-time":"2023-10-15T08:05:13Z","timestamp":1697357113000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jicd.12019"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,11,27]]},"references-count":8,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2013,5]]}},"alternative-id":["10.1111\/jicd.12019"],"URL":"https:\/\/doi.org\/10.1111\/jicd.12019","archive":["Portico"],"relation":{},"ISSN":["2041-1618","2041-1626"],"issn-type":[{"value":"2041-1618","type":"print"},{"value":"2041-1626","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,11,27]]}}}