Ontology highlight
ABSTRACT:
SUBMITTER: Perez-Sayans M
PROVIDER: S-EPMC3842775 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
Pérez-Sayáns Mario M Barros-Angueira Francisco F Suárez-Peñaranda Jos Ém JÉ García-García Abel A
Head & face medicine 20131105
<h4>Unlabelled</h4>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. Here we present two cases of familial cherubism, uncle and nephew, with variable clinical involvement ("Expressivity"), and one case of a woman (sister and mother, respectively), who t ...[more]