Ear Nose Throat J. 2015 Jan;94(1):22-4.
FIRST PARAGRAPH: Cherubism is an autosomal-dominant inherited disease with variable expression. It is characterized by a progressive, painless, and symmetric expansion of the jaws. The disease is caused by a point mutation in the SH3BP2 gene (chromosome 4p16.3), which leads to dysregulation of the Msx-1 gene; this gene is involved in regulating mesenchymal interaction in craniofacial morphogenesis.
PubMed ID: 25606831
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