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

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 yet the...

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Detalles Bibliográficos
Autores principales: Morice, Anne, Joly, Aline, Ricquebourg, Manon, Maruani, Gérard, Durand, Emmanuel, Galmiche, Louise, Amiel, Jeanne, Vial, Yoann, Cavé, Hélène, Belhous, Kahina, Piketty, Marie, Cohen-Solal, Martine, Berdal, Ariane, Collet, Corinne, Picard, Arnaud, Coudert, Amelie E., Kadlub, Natacha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7441549/
https://www.ncbi.nlm.nih.gov/pubmed/32825821
http://dx.doi.org/10.1186/s12891-020-03580-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7441549/
https://www.ncbi.nlm.nih.gov/pubmed/32825821
http://dx.doi.org/10.1186/s12891-020-03580-z

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