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In page Cherubism:

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The chemical imbalance is usually diagnosed when dental abnormalities are found. These abnormalities include premature deciduous teeth and abnormal growth of permanent teeth due to displacement by cysts and lesions. The only definite way to correctly diagnose the condition is by sequence analysis of the SH3BP2 gene. The gene has been found to have missense mutation in exon 9.[1] Initial study of the patient is usually conducted using x-ray and CT scans. Neurofibromatosis may resemble cherubism and may accompany the condition. Genetic testing is the final diagnosis tool.[citation needed]