{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T13:34:09Z","timestamp":1773149649749,"version":"3.50.1"},"reference-count":50,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2006,8,18]],"date-time":"2006-08-18T00:00:00Z","timestamp":1155859200000},"content-version":"vor","delay-in-days":17,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Orthod Craniofacial Res"],"published-print":{"date-parts":[[2006,8]]},"abstract":"<jats:title>Structured Abstract<\/jats:title><jats:p><jats:bold>Authors\u2002\u2013\u2002<\/jats:bold>Gerits A, Nieminen P, De Muynck S, Carels C<\/jats:p><jats:p><jats:bold>Purpose\u2002\u2013\u2002<\/jats:bold>This paper describes the screening of eight patients with severe oligodontia for<jats:italic>PAX9<\/jats:italic>and<jats:italic>AXIN2<\/jats:italic>mutations.<\/jats:p><jats:p><jats:bold>Subjects and Methods\u2002\u2013\u2002<\/jats:bold>Anamnestic data and a panoramic radiograph were collected to study the phenotype of eight patients with oligodontia and their first\u2010degree relatives. A blood sample was taken for a mutational screening for<jats:italic>PAX9<\/jats:italic>and<jats:italic>AXIN2<\/jats:italic>mutations.<\/jats:p><jats:p><jats:bold>Results\u2002\u2013\u2002<\/jats:bold>No mutations were discovered, but a unique nucleotide change in a conserved 5\u2032 flanking region of PAX9 was revealed. Earlier screening of the same patients for<jats:italic>MSX1<\/jats:italic>mutations also had a negative outcome.<\/jats:p><jats:p><jats:bold>Conclusions\u2002\u2013\u2002<\/jats:bold>Considering the discrepancy between the high incidence rate of agenesis and the relatively small number of reported causative mutations in<jats:italic>PAX9<\/jats:italic>,<jats:italic>MSX1<\/jats:italic>and<jats:italic>AXIN2<\/jats:italic>genes, the genetic contribution to oligodontia probably is much more heterogeneous than expected so far. Therefore negative results, like the present exclusion data, should be published more often in order to get a better appreciation of the relative contribution of these specific mutations causing oligodontia. In this context the exact number of tested probands also should be mentioned at all cases. Recent evidence of PAX9\u2013MSX1 protein interactions in odontogenesis as well as other genes and developmental factors should receive more attention.<\/jats:p>","DOI":"10.1111\/j.1601-6343.2006.00367.x","type":"journal-article","created":{"date-parts":[[2006,8,18]],"date-time":"2006-08-18T09:46:48Z","timestamp":1155894408000},"page":"129-136","source":"Crossref","is-referenced-by-count":34,"title":["Exclusion of coding region mutations in<i>MSX1<\/i>,<i>PAX9<\/i>and<i>AXIN2<\/i>in eight patients with severe oligodontia phenotype"],"prefix":"10.1111","volume":"9","author":[{"given":"A","family":"Gerits","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Nieminen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"De 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