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In page Cherubism:
"The cause of cherubism is believed to be from a mutation of gene of SH3BP2. Cherubism has also been found combined with other genetic disorders including Noonan syndrome, Ramon syndrome, and fragile X syndrome.[2] Mutations of the SH3BP2 gene are only reported in 75% of Cherubism cases.[3] The mutation of the SH3BP2 gene is believed to increase production of over active proteins from this gene. The SH3BP2 gene is found on the smaller arm of chromosome 4 at position 16.3.[3] The SH3BP2 protein is involved with chemical signaling to immune system cells known as macrophages and B cells.
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