Cherubism as a systemic skeletal disease: evidence from an aggressive case

Cherubism as a systemic skeletal disease: evidence from an aggressive case

Abstract Background Cherubism is a rare autosomal dominant genetic condition caused by mutations in the SH3BP2 gene. This disease is characterized by osteolysis of the jaws, with the bone replaced by soft tissue rich in fibroblasts and multinuclear giant cells. SH3BP2 is a ubiquitous adaptor protein...

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Bibliographic Details
Main Authors: Anne Morice, Aline Joly, Manon Ricquebourg, Gérard Maruani, Emmanuel Durand, Louise Galmiche, Jeanne Amiel, Yoann Vial, Hélène Cavé, Kahina Belhous, Marie Piketty, Martine Cohen-Solal, Ariane Berdal, Corinne Collet, Arnaud Picard, Amelie E. Coudert, Natacha Kadlub
Format: Article
Language:English
Published: BMC 2020-08-01
Series:BMC Musculoskeletal Disorders
Subjects:
Cherubism
SH3BP2 protein
Systemic inflammation
Bone loss phenotype
Case report
Online Access:http://link.springer.com/article/10.1186/s12891-020-03580-z

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http://link.springer.com/article/10.1186/s12891-020-03580-z

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