{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T21:55:14Z","timestamp":1772142914172,"version":"3.50.1"},"reference-count":13,"publisher":"BMJ","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMJ Case Reports"],"abstract":"<jats:p>The RUNX2 gene is a physiological regulatory gene implicated in the development of cleidocranial dysplasia (CCD). A 13-month-old child presented with clinical features of CCD. At the age of 3\u2005years the diagnosis was corroborated by clinical genetic assessment and DNA analysis, revealing a missense mutation p.R131C (c.391C&gt;T) in RUNX2. At the age of 8\u2005years the child was found to have a unique dental phenotype, represented by lack of supernumerary teeth and congenital absence of one tooth. A simple therapeutic approach was adopted, consisting of interceptive orthodontic treatment. The presence of this specific missense mutation in RUNX2, associated with the lack of typical supernumerary teeth may suggest a phenotype\u2013genotype association.<\/jats:p>","DOI":"10.1136\/bcr-12-2011-5422","type":"journal-article","created":{"date-parts":[[2012,12,5]],"date-time":"2012-12-05T13:52:23Z","timestamp":1354715543000},"page":"bcr1220115422","source":"Crossref","is-referenced-by-count":11,"title":["A new phenotypic variant in cleidocranial dysplasia (CCD) associated with mutation c.391C&gt;T of the RUNX2 gene"],"prefix":"10.1136","volume":"2012","author":[{"given":"Michele","family":"Callea","sequence":"first","affiliation":[{"name":"Institute for Maternal and Child Health\u2014IRCCS \u2018Burlo Garofolo\u2019, Trieste, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabiana","family":"Fattori","sequence":"additional","affiliation":[{"name":"Unit of Neuromuscular Disorders, Rehabilitation and Laboratory of Biochemistry, Bambino Gesu' Children's Research Hospital IRCCS , Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Izzet","family":"Yavuz","sequence":"additional","affiliation":[{"name":"Department of Paediatric Dentistry, University of Dicle, Diyarbakir, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enrico","family":"Bertini","sequence":"additional","affiliation":[{"name":"Unit of Neuromuscular Disorders, Rehabilitation and Laboratory of Biochemistry, Bambino Gesu' Children's Research Hospital IRCCS , Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2012,12,5]]},"reference":[{"key":"2025082800501557000_2012.dec05_1.bcr1220115422.1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-100825"},{"key":"2025082800501557000_2012.dec05_1.bcr1220115422.2","doi-asserted-by":"crossref","unstructured":"Ott CE Leschik G Trotier F . Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia. 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