{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T05:11:31Z","timestamp":1771650691272,"version":"3.50.1"},"reference-count":31,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2017,7,21]],"date-time":"2017-07-21T00:00:00Z","timestamp":1500595200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["09\/54068\u20100"],"award-info":[{"award-number":["09\/54068\u20100"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["302964\/2015\u20100"],"award-info":[{"award-number":["302964\/2015\u20100"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Oral Diseases"],"published-print":{"date-parts":[[2017,11]]},"abstract":"<jats:sec><jats:title>Objective<\/jats:title><jats:p>To describe the clinical and genetic features of patients with cherubism.<\/jats:p><\/jats:sec><jats:sec><jats:title>Material and Methods<\/jats:title><jats:p>A descriptive analysis of 14 cases from nine different families was carried out. Clinicopathological, imaging, and follow\u2010up data were retrieved from patients\u2019 medical files and correlated with the genetic profile of each patient. Genomic <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> isolated from buccal mucosa cells was subjected to direct sequencing analysis of the <jats:italic><jats:styled-content style=\"fixed-case\">SH<\/jats:styled-content>3<jats:styled-content style=\"fixed-case\">BP<\/jats:styled-content>2<\/jats:italic> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Females were more affected than males (8:6), and the mean age at diagnosis was 8.6\u00a0years (range 3\u201330\u00a0years). Eleven patients exhibited simultaneous bilateral involvement of the maxilla and mandible. Two patients did not have a familial history of cherubism. Progressive growth pattern was found in six patients and stable lesions were observed in other seven patients, whereas in one patient, complete spontaneous remission was documented during the follow\u2010up (31\u00a0years). Mutations were found in 13 cases and included the typical heterozygous missense mutations R415Q, P418T, and P418H at exon 9 of <jats:italic><jats:styled-content style=\"fixed-case\">SH<\/jats:styled-content>3<jats:styled-content style=\"fixed-case\">BP<\/jats:styled-content>2<\/jats:italic>. No correlation between the mutations and the clinical manifestations was observed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Three different point mutations in the <jats:italic><jats:styled-content style=\"fixed-case\">SH<\/jats:styled-content>3<jats:styled-content style=\"fixed-case\">BP<\/jats:styled-content>2<\/jats:italic> gene were detected with variable clinical involvement. Genotype\u2013phenotype association studies in larger population with cherubism are necessary to provide important knowledge about molecular mechanisms related to the disease.<\/jats:p><\/jats:sec>","DOI":"10.1111\/odi.12705","type":"journal-article","created":{"date-parts":[[2017,6,23]],"date-time":"2017-06-23T12:52:47Z","timestamp":1498222367000},"page":"1109-1115","source":"Crossref","is-referenced-by-count":21,"title":["Clinical and genetic analysis of patients with cherubism"],"prefix":"10.1111","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1697-3662","authenticated-orcid":false,"given":"RA","family":"Machado","sequence":"first","affiliation":[{"name":"Department of Oral Diagnosis (Pathology and Semiology) Piracicaba Dental School University of Campinas  Piracicaba 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