期刊
NATURE GENETICS
卷 28, 期 2, 页码 125-126出版社
NATURE AMERICA INC
DOI: 10.1038/88832
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资金
- NIAMS NIH HHS [AR36819, AR36820] Funding Source: Medline
Cherubism (MIM 118400) is an autosomal dominant inherited syndrome characterized by excessive bone degradation of the upper and lower jaws(1) 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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