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Also, the new potential candidate genes were reported to expand our knowledge about their molecular pathogenesis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Abstract<\/jats:title><jats:p>We report a case of expansive florid cemento\u2010osseus dysplasia in a 32\u2010year\u2010old female patient who presented an expansive tumoral lesion in the anterior mandible. As florid cemento\u2010osseus dysplasia have only been molecularly investigated using targeted\u2010sequencing, fragments of the lesion were collected and subjected to molecular investigation using WES to assess somatic mutations as well as copy number alterations. No gains and losses of chromosomal arms or segments longer than 1\u2009Mb were detected. Our findings revealed a pathogenic stopgain variant at the KIF5C gene, a stoploss variant at MAPK10, and missense SNV at COL6A2 at DCDC1, suggesting potential candidate genes associated with florid cemento\u2010osseus dysplasia.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ccr3.9265","type":"journal-article","created":{"date-parts":[[2024,8,6]],"date-time":"2024-08-06T06:55:31Z","timestamp":1722927331000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Whole\u2010exome sequencing and copy number alterations analysis in a case of expansive florid cemento\u2010osseous dysplasia"],"prefix":"10.1002","volume":"12","author":[{"given":"Carolina Cavali\u00e9ri","family":"Gomes","sequence":"first","affiliation":[{"name":"Department of Pathology Biological Science Institute, Universidade Federal de Minas Gerais  Belo Horizonte Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0360-4179","authenticated-orcid":false,"given":"Victor Coutinho","family":"Bastos","sequence":"additional","affiliation":[{"name":"Department of Pathology Biological Science Institute, Universidade Federal de Minas Gerais  Belo Horizonte Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmed","family":"El\u00a0Mouatani","sequence":"additional","affiliation":[{"name":"Department of Human Genetics McGill University  Montreal Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filipe Fideles","family":"Duarte\u2010Andrade","sequence":"additional","affiliation":[{"name":"Department of Oral Surgery and Pathology, School of Dentistry Universidade Federal de Minas Gerais  Belo Horizonte Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nada","family":"Jabado","sequence":"additional","affiliation":[{"name":"Department of Human Genetics McGill University  Montreal Canada"},{"name":"Department of Pediatrics McGill University and the Research Institute of the McGill University Heath Centre  Montreal Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wagner Henriques","family":"de Castro","sequence":"additional","affiliation":[{"name":"Department of Oral Surgery and Pathology, School of Dentistry Universidade Federal de Minas Gerais  Belo Horizonte Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8770-8009","authenticated-orcid":false,"given":"Ricardo Santiago","family":"Gomez","sequence":"additional","affiliation":[{"name":"Department of Oral Surgery and Pathology, School of Dentistry Universidade Federal de Minas Gerais  Belo Horizonte Brazil"},{"name":"Medical School Faculdade Ci\u00eancias M\u00e9dicas de Minas Gerais  Belo Horizonte Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,8,5]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12105-014-0590-0"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12105-008-0057-2"},{"key":"e_1_2_13_4_1","volume-title":"WHO Classification of Tumours Editorial Board. 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