{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T17:58:32Z","timestamp":1792605512351,"version":"4.5.0"},"reference-count":28,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T00:00:00Z","timestamp":1104537600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Dent Res"],"published-print":{"date-parts":[[2005,1]]},"abstract":"<jats:p>Tooth development is under strict genetic control. Oligodontia is defined as the congenital absence of 6 or more permanent teeth, excluding the third molar. The occurrence of non-syndromic oligodontia is poorly understood, but in recent years several cases have been described where a single gene mutation is associated with oligodontia. Several studies have shown that MSX1 and PAX9 play a role in early tooth development. We screened one family with non-syndromic oligodontia for mutations in MSX1 and PAX9. The pedigree showed an autosomal-dominant pattern of inheritance. Direct sequencing and restriction enzyme analysis revealed a novel heterozygous A to G transition mutation in the AUG initiation codon of PAX9 in exon 1 in the affected members of the family. This is the first mutation found in the initiation codon of PAX9, and we suggest that it causes haploinsufficiency.<\/jats:p>","DOI":"10.1177\/154405910508400107","type":"journal-article","created":{"date-parts":[[2009,1,8]],"date-time":"2009-01-08T19:39:42Z","timestamp":1231443582000},"page":"43-47","source":"Crossref","is-referenced-by-count":83,"title":["Novel Mutation of the Initiation Codon of\n                    <i>PAX9<\/i>\n                    Causes Oligodontia"],"prefix":"10.1177","volume":"84","author":[{"given":"M.L.","family":"Klein","sequence":"first","affiliation":[{"name":"Department of Pediatric Dentistry and Clinical Genetics, School of Dentistry, Faculty of Health Sciences, University of Copenhagen, N\u00f8rre All\u00e9 20, DK- 2200 Copenhagen, Denmark;"},{"name":"Institute of Dentistry and Institute of Biotechnology, University of Helsinki, Finland;"},{"name":"Department of Oral and Maxillofacial Diseases, Helsinki University Central Hospital, Finland;"},{"name":"Department of Medical Biochemistry and Genetics, Faculty of Health Sciences, University of Copenhagen, Denmark; and"},{"name":"Center for Rare Oral Diseases, Copenhagen University Hospital, Denmark;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Nieminen","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dentistry and Clinical Genetics, School of Dentistry, Faculty of Health Sciences, University of Copenhagen, N\u00f8rre All\u00e9 20, DK- 2200 Copenhagen, Denmark;"},{"name":"Institute of Dentistry and Institute of Biotechnology, University of Helsinki, Finland;"},{"name":"Department of Oral and Maxillofacial Diseases, Helsinki University Central Hospital, Finland;"},{"name":"Department of Medical Biochemistry and Genetics, Faculty of Health Sciences, University of Copenhagen, Denmark; and"},{"name":"Center for Rare Oral Diseases, Copenhagen University Hospital, Denmark;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Lammi","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dentistry and Clinical Genetics, School of Dentistry, Faculty of Health Sciences, University of Copenhagen, N\u00f8rre All\u00e9 20, DK- 2200 Copenhagen, Denmark;"},{"name":"Institute of Dentistry and Institute of Biotechnology, University of Helsinki, Finland;"},{"name":"Department of Oral and Maxillofacial Diseases, Helsinki University Central Hospital, Finland;"},{"name":"Department of Medical Biochemistry and Genetics, Faculty of Health Sciences, University of Copenhagen, Denmark; and"},{"name":"Center for Rare Oral Diseases, Copenhagen University Hospital, Denmark;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Niebuhr","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dentistry and Clinical Genetics, School of Dentistry, Faculty of Health Sciences, University of Copenhagen, N\u00f8rre All\u00e9 20, DK- 2200 Copenhagen, Denmark;"},{"name":"Institute of Dentistry and Institute of Biotechnology, University of Helsinki, Finland;"},{"name":"Department of Oral and Maxillofacial Diseases, Helsinki University Central Hospital, Finland;"},{"name":"Department of Medical Biochemistry and Genetics, Faculty of Health Sciences, University of Copenhagen, Denmark; and"},{"name":"Center for Rare Oral Diseases, Copenhagen University Hospital, Denmark;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Kreiborg","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dentistry and Clinical Genetics, School of Dentistry, Faculty of Health Sciences, University of Copenhagen, N\u00f8rre All\u00e9 20, DK- 2200 Copenhagen, Denmark;"},{"name":"Institute of Dentistry and Institute of Biotechnology, University of Helsinki, Finland;"},{"name":"Department of Oral and Maxillofacial Diseases, Helsinki University Central Hospital, Finland;"},{"name":"Department of Medical Biochemistry and Genetics, Faculty of Health Sciences, University of Copenhagen, Denmark; and"},{"name":"Center for Rare Oral Diseases, Copenhagen University Hospital, Denmark;"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2005,1,1]]},"reference":[{"key":"CHI-AND-EPSTEIN-2002","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-9525(01)02594-X"},{"key":"DAS-ETAL-2002","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0699-1"},{"key":"DAS-ETAL-2003","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10011"},{"key":"FRAZIER-BOWERS-ETAL-2002","doi-asserted-by":"publisher","DOI":"10.1177\/0810129"},{"key":"GOLDENBERG-ETAL-2000","doi-asserted-by":"publisher","DOI":"10.1177\/00220345000790070701"},{"key":"GORLIN-ETAL-2001","doi-asserted-by":"publisher","DOI":"10.1093\/oso\/9780195118612.001.0001"},{"key":"GRAHNEN-1956","unstructured":"Grahn\u00e9n H (1956). 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