1.
Nat Genet
; 28(2): 125-6, 2001 Jun.
Article
in English
| MEDLINE
| ID: mdl-11381256
ABSTRACT
Cherubism (MIM 118400) is an autosomal dominant inherited syndrome characterized by excessive bone degradation of the upper and lower jaws followed by development of fibrous tissue masses, which causes a characteristic facial swelling. Here we describe seven mutations in the SH3-binding protein SH3BP2 (MIM 602104) on chromosome 4p16.3 that cause cherubism.