Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism |
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| Authors: | Ueki Y Tiziani V Santanna C Fukai N Maulik C Garfinkle J Ninomiya C doAmaral C Peters H Habal M Rhee-Morris L Doss J B Kreiborg S Olsen B R Reichenberger E |
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| Institution: | Harvard-Forsyth Department of Oral Biology, Harvard School of Dental Medicine and The Forsyth Institute, Harvard Medical School, Boston, Massachusetts, USA. |
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| 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. |
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