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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2013
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3842775/ https://www.ncbi.nlm.nih.gov/pubmed/24382142 http://dx.doi.org/10.1186/1746-160X-9-33 |