Case Reports
doi: 10.1016/j.oraloncology.2007.01.012.
Epub 2007 Mar 23.
A novel mutation of the SH3BP2 gene in an aggressive case of cherubism
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- PMID: 17368082
- DOI: 10.1016/j.oraloncology.2007.01.012
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Case Reports
A novel mutation of the SH3BP2 gene in an aggressive case of cherubism
Oral Oncol.
2008 Feb.
Abstract
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 case of cherubism located in the pleckstrin homology domain (PH) of the SH3BP2.
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