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...

Descripción completa

Detalles Bibliográficos
Autores principales: Pérez-Sayáns, Mario, Barros-Angueira, Francisco, Suárez-Peñaranda, José M, García-García, Abel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Case Report
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

Internet

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

Ejemplares similares