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Variable expressivity familial cherubism: woman transmitting cherubism without suffering the disease

Cherubism is classified within the group of benign osteo-fibrous lesions. Aside from facial deformities, it may account for major complications. It has been observed that the disease is caused by a mutation in the gene SH3BP2 (SH3-domain binding protein 2), which is located at chromosome 4pl6.3. Her...

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Bibliografische gegevens
Hoofdauteurs: Pérez-Sayáns, Mario, Barros-Angueira, Francisco, Suárez-Peñaranda, José M, García-García, Abel
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BioMed Central 2013
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3842775/
https://ncbi.nlm.nih.gov/pubmed/24382142
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1746-160X-9-33
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