Cherubism
Definition:
Cherubism is an uncommon disorder of the jaws in childhood. The maxillary bones are replaced with pseudocystic osteolytic lesions, affecting dentition. Mutated SH3BP2, which can enhance BCR signaling, is involved in the pathogenesis of cherubism.
References:
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[1]. Carmen Mortellaro, et al. Diagnosis and treatment of familial cherubism characterized by early onset and rapid development. J Craniofac Surg. 2009 Jan;20(1):116-20. [Content Brief]
[2]. Kazuhiro Ogi, et al. Enhancement of B-cell receptor signaling by a point mutation of adaptor protein 3BP2 identified in human inherited disease cherubism. Genes Cells. 2011 Sep;16(9):951-60. [Content Brief]
Biomedical Dictionary
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