{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T05:48:22Z","timestamp":1790833702656,"version":"4.1.0"},"reference-count":42,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2011,5,27]],"date-time":"2011-05-27T00:00:00Z","timestamp":1306454400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2011,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Oligodontia is defined as the congenital lack of six or more permanent teeth, excluding third molars. Oligodontia as well as hypodontia (lack of one or more permanent teeth) are highly heritable conditions associated with mutations in the\n                    <jats:italic>AXIN2<\/jats:italic>\n                    ,\n                    <jats:italic>MSX1<\/jats:italic>\n                    ,\n                    <jats:italic>PAX9<\/jats:italic>\n                    ,\n                    <jats:italic>EDA<\/jats:italic>\n                    , and\n                    <jats:italic>EDAR<\/jats:italic>\n                    genes. Here we define the prevalence of mutations in the\n                    <jats:italic>AXIN2<\/jats:italic>\n                    ,\n                    <jats:italic>MSX1<\/jats:italic>\n                    ,\n                    <jats:italic>PAX9<\/jats:italic>\n                    ,\n                    <jats:italic>EDA<\/jats:italic>\n                    , and\n                    <jats:italic>EDAR<\/jats:italic>\n                    genes, and the novel candidate gene\n                    <jats:italic>EDARADD<\/jats:italic>\n                    in a cohort of 93 Swedish probands with non\u2010syndromic, isolated oligodontia. Mutation screening was performed using denaturing gradient gel electrophoresis and DNA sequence analysis. Analyses of the coding sequences of the six genes showed sequence alterations predicted to be damaging or potentially damaging in ten of 93 probands (10.8%). Mutations were identified in the\n                    <jats:italic>EDARADD<\/jats:italic>\n                    (n\u2009=\u20091),\n                    <jats:italic>AXIN2<\/jats:italic>\n                    (n\u2009=\u20093),\n                    <jats:italic>MSX1<\/jats:italic>\n                    (n\u2009=\u20092), and\n                    <jats:italic>PAX9<\/jats:italic>\n                    (n\u2009=\u20094) genes, respectively. None of the 10 probands with mutations had other self\u2010reported symptoms from ectodermal tissues. The oral parameters were similar when comparing individuals with and without mutations but a family history of oligodontia was three times more frequent for probands with mutations.\n                    <jats:italic>EDARADD<\/jats:italic>\n                    mutations have previously been reported in a few families segregating hypohidrotic ectodermal dysplasia and this is, to our knowledge, the first report of an\n                    <jats:italic>EDARADD<\/jats:italic>\n                    mutation associated with isolated oligodontia. \u00a9 2011 Wiley\u2010Liss, Inc.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.34045","type":"journal-article","created":{"date-parts":[[2011,5,27]],"date-time":"2011-05-27T13:36:57Z","timestamp":1306503417000},"page":"1616-1622","source":"Crossref","is-referenced-by-count":132,"title":["Isolated oligodontia associated with mutations in\n                    <i>EDARADD<\/i>\n                    ,\n                    <i>AXIN2<\/i>\n                    ,\n                    <i>MSX1<\/i>\n                    , and\n                    <i>PAX9<\/i>\n                    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