Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Cherubism is an autosomal recessive or dominant disease of childhood and adolescens caused by mutations of the SH3BP2 gene. It is characterized by autoinflammatory fibroosseous enlargement of manidible and maxilla. Regression occurs in the 3rd decase, so that by the age of 30 everything is normal.
SH3BP2 deficienc with multilocular cysticy disease of the mandibles
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Central giant cell lesion
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Cherubism
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SH3BP2
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Familial multilocular cystic disease of the jaws
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| 1. |
Ueki Y et al. (2001) Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism. 
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None (1979) Cherubism: a study of twenty cases from one family.
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None (1965) Cherubism. A thumbnail sketch of its diagnosis and a conservative method of treatment.
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| 4. |
Khosla VM et al. (1970) Cherubism.
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| 5. |
Quan F et al. (1995) Spontaneous deletion in the FMR1 gene in a patient with fragile X syndrome and cherubism.
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| 6. |
Mangion J et al. (1999) The gene for cherubism maps to chromosome 4p16.3.
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| 7. |
Tiziani V et al. (1999) The gene for cherubism maps to chromosome 4p16.
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| 8. |
Stiller M et al. (2000) Craniosynostosis in cherubism.
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| 9. |
Ahmadi AJ et al. (2003) Optic neuropathy and macular chorioretinal folds caused by orbital cherubism.
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| 10. |
Wikipedia article Wikipedia EN (Cherubism)
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