Clinical and genetic analysis of patients with cherubism.
Renato Assis MachadoHelder Antonio Rebelo PontesF R PiresH M SilveiraA BufalinoR CarlosF M TujiDbm AlvesA R Santos-SilvaM A LopesH M CapistranoRicardo Della ColettaF P FonsecaPublished in: Oral diseases (2017)
Three different point mutations in the SH3BP2 gene were detected with variable clinical involvement. Genotype-phenotype association studies in larger population with cherubism are necessary to provide important knowledge about molecular mechanisms related to the disease.