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Cherubism

Known as: Cherubism [Disease/Finding], Familial Fibrous Dysplasia of the Jaws, Familial Multilocular Cystic Disease of the Jaws 
A rare autosomal dominant inherited disorder usually caused by mutations in the SH3BP2 gene. It is characterized by a prominent lower part of the… 
National Institutes of Health

Related topics

Related topics

17 relations

Narrower (2)

Al Gazali Khidr Prem Chandran syndromeRamon Syndrome
Autosomal dominant inheritanceExophthalmosIn BloodMicrobiological

Broader (1)

Familial disease

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
Design and discovery of 3-aryl-5-substituted-isoquinolin-1-ones as potent tankyrase inhibitors
The tankyrase proteins (TNKS, TNKS2), members of the PARP superfamily of enzymes, are attractive anti-cancer drug targets… 
Highly Cited
2004
Highly Cited
2004
Point mutations of 3BP2 identified in human‐inherited disease cherubism result in the loss of function
Adaptor protein 3BP2 positively regulates the high affinity IgE receptor (FcɛRI)‐mediated activation of degranulation in mast… 
2004
2004
Temporal bone involvement in cherubism: case report.
Cherubism is a rare benign hereditary fibro-osseous disease involving the mandible and maxilla. We report a case of cherubism in… 
1997
1997
Cherubism: presentation of a case.
Cherubism is a rare, fibro-osseous bone disease that affects the jaws. Bilateral enlargement of the mandible produces a full… 
1993
1993
Multiple central giant cell lesions with a Noonan-like phenotype.
1990
1990
The use of liposuction to contour cherubism.
Yet another application of suction lipectomy equipment is presented to remove the pathologic tissue in cherubism. Owing to the… 
1982
1982
Multiple giant cell lesions of the jaws.
1977
1977
Maxillary giant cell reparative granuloma
“Giant cell reparative granuloma” was introduced into medical literature by Jaffe in 1953. Prior to that time most authors… 
Highly Cited
1972
Highly Cited
1972
Atlas of the Ultrastructure of Human Skin
In this book the authors of the well known textbook on general pathology have been joined by a dental surgeon, and the intention… 
1969
1969
Fibrous dysplasia of jaw bones. A clinical, roentgenographic and histopathologic study.
A clinical, roentgenographic and histopathologic study of 20 cases of fibrous dysplasia of jaw bones is presented. The ratio of… 
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