| Literature DB >> 11381256 |
Y Ueki1, V Tiziani, C Santanna, N Fukai, C Maulik, J Garfinkle, C Ninomiya, C doAmaral, H Peters, M Habal, L Rhee-Morris, J B Doss, S Kreiborg, B R Olsen, E Reichenberger.
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.Entities:
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Year: 2001 PMID： 11381256 DOI： 10.1038/88832
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330