Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Familial multilocular cystic disease of the jaws is the name of the disorder coined when first described in 1959. More recent publications rather use the terms cherubism or central giant cell lesion instead although the meaning is overlapping. The disorder is caused by autosomal dominant mutations of the SH3BP2 gene.
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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Familial multilocular cystic disease of the jaws
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SH3BP2
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| 1. |
Bell SM et al. (1997) Identification and characterization of the human homologue of SH3BP2, an SH3 binding domain protein within a common region of deletion at 4p16.3 involved in bladder cancer. 
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| 2. |
Ueki Y et al. (2001) Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism.
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Lo B et al. (2003) Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism.
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| 4. |
Ueki Y et al. (2007) Increased myeloid cell responses to M-CSF and RANKL cause bone loss and inflammation in SH3BP2 "cherubism" mice.
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| 5. |
CHOREMIS K et al. (1959) Familial multilocular cystic disease of the jaws.
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