Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism
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- 1 June 2001
- journal article
- research article
- Published by Springer Nature in Nature Genetics
- Vol. 28 (2) , 125-126
- https://doi.org/10.1038/88832
Abstract
Cherubism (MIM 118400) is an autosomal dominant inherited syndrome characterized by excessive bone degradation of the upper and lower jaws1 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.Keywords
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