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The role of SH3BP2 in the pathophysiology of cherubism

✍ Scribed by Reichenberger, Ernst J; Levine, Michael A; Olsen, Bjorn R; Papadaki, Maria E; Lietman, Steven A


Book ID
115023325
Publisher
BioMed Central
Year
2012
Tongue
English
Weight
690 KB
Volume
7
Category
Article
ISSN
1750-1172

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Identification of a novel mutation of SH
✍ Steven A. Lietman; Natasha Kalinchinko; Xichao Deng; Ronald Kohanski; Michael A. πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 177 KB

We describe a novel missense mutation (Aspartic acid to Asparagine, p.D419N (g.1371G>A, c.1255G>A) within exon 9 of SH3BP2 in a patient with cherubism, an autosomal dominant syndrome characterized by excessive osteoclastic bone resorption of the jaw. Two siblings and the father were carriers but lac