Article
A novel mutation of the SH3BP2 gene in an aggressive case of cherubism.
Oral oncology - 1 Feb 2008
Carvalho Vinicius Magalhães, Perdigão Paôlla Freitas, Pimenta Flávio Juliano, de Souza Paulo Eduardo Alencar, Gomez Ricardo Santiago, De Marco Luiz
Abstract excerpt
Cherubism is an autosomal dominant inherited syndrome characterized by excessive bone degradation of upper and lower jaw and its replacement with large amounts of fibrous tissue, which causes a characteristic facial swelling. A correlation with a mutation in the gene SH3BP2 has been previously demonstrated, but a model for its pathogenesis is not yet available. Here we describe a novel mutation in an aggressive...
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