Article
A novel c.1255G>T (p.D419Y) mutation in SH3BP2 gene causes cherubism in a Turkish family.
Oral surgery, oral medicine, oral pathology and oral radiology - 1 Nov 2012
Dinckan Nuriye, Guven Yeliz, Kayserili Hulya, Aktoren Oya, Uyguner Oya Zehra
Abstract excerpt
Cherubism (MIM no. 118400) is a rare autosomal dominant disorder characterized by bilateral multilocular lesions of the upper and lower jaws. The lesions usually manifest clinically during early childhood, progress until puberty, and regress in adulthood. SH3BP2 is the only gene currently known to be associated with cherubism. This study began with an 8-year-old boy who was referred owing to overgrowth of...
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