{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,18]],"date-time":"2025-09-18T10:50:23Z","timestamp":1758192623237,"version":"3.44.0"},"reference-count":45,"publisher":"Necmettin Erbakan University Press","issue":"01","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cherubism is a rare genetic condition characterized by a bone nonneoplastic disease. We aimed to report a 6-year-old girl with cherubism presenting similar cases in the maternal family. However, her mother and grandmother seemed to be asymptomatic. The patient had an enlarged and asymmetric jaw with multiple enlarged cervical lymph nodes that increased in size with time. Sanger sequencing revealed a heterozygous mutation in exon 9 of SH3BP2 not only in the patient but also in her mother. Thus, we observed a variable expression and a probably reduced penetrance within the family, as well as unusual characteristics of the patient (in this case, the asymmetrical involvement of the jaw).<\/jats:p>","DOI":"10.1055\/s-0040-1705095","type":"journal-article","created":{"date-parts":[[2020,2,28]],"date-time":"2020-02-28T19:27:32Z","timestamp":1582918052000},"page":"063-069","source":"Crossref","is-referenced-by-count":0,"title":["Unusual Characteristics and Variable Expressivity in a Brazilian Family with Cherubism"],"prefix":"10.53391","volume":"10","author":[{"given":"Desir\u00e9e","family":"Deconte","sequence":"additional","affiliation":[{"name":"Graduate Program in Pathology, Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre, Porto Alegre, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisa Pacheco Estima","family":"Correia","sequence":"additional","affiliation":[{"name":"Graduation in Medicine, Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre, Porto Alegre, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G\u00e9ssica","family":"Haubert","sequence":"additional","affiliation":[{"name":"Graduation in Medicine, Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre, Porto Alegre, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vinicius","family":"de Souza","sequence":"additional","affiliation":[{"name":"Graduation in Medicine, Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre, Porto Alegre, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jamile Dutra","family":"Correia","sequence":"additional","affiliation":[{"name":"Graduate Program in Pathology, Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre, Porto Alegre, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcia Angelica Peter","family":"Maahs","sequence":"additional","affiliation":[{"name":"Department of Speech Language Pathology, Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre, Porto Alegre, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paulo Ricardo Gazzola","family":"Zen","sequence":"additional","affiliation":[{"name":"Graduate Program in Pathology, Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre, Porto Alegre, Brazil"},{"name":"Department of Clinical Medicine, Clinical Genetics, Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre and Santa Casa de Miseric\u00f3rdia de Porto Alegre, Porto Alegre, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marilu","family":"Fiegenbaum","sequence":"additional","affiliation":[{"name":"Graduate Program in Pathology, Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre, Porto Alegre, Brazil"},{"name":"Department of Basic Health Sciences, Human 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