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Unusual Characteristics and Variable Expressivity in a Brazilian Family with Cherubism

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...

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Bibliografiske detaljer
Udgivet i:J Pediatr Genet
Main Authors: Deconte, Desirée, Correia, Elisa Pacheco Estima, Haubert, Géssica, de Souza, Vinicius, Correia, Jamile Dutra, Maahs, Marcia Angelica Peter, Zen, Paulo Ricardo Gazzola, Fiegenbaum, Marilu, Rosa, Rafael Fabiano Machado
Format: Artigo
Sprog:Inglês
Udgivet: Georg Thieme Verlag KG 2021
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7853913/
https://ncbi.nlm.nih.gov/pubmed/33552642
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0040-1705095
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