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A novel mutation of the SH3BP2 gene in an aggressive case of cherubism

✍ Scribed by Vinicius Magalhães Carvalho; Paôlla Freitas Perdigão; Flávio Juliano Pimenta; Paulo Eduardo Alencar de Souza; Ricardo Santiago Gomez; Luiz De Marco


Book ID
113832869
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
150 KB
Volume
44
Category
Article
ISSN
1368-8375

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Identification of a novel mutation of SH
✍ Steven A. Lietman; Natasha Kalinchinko; Xichao Deng; Ronald Kohanski; Michael A. 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 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