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Tankyrase Loses Its Grip on SH3BP2 in Cherubism

✍ Scribed by Agnes D. Berendsen; Bjorn R. Olsen

Book ID
116354742
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
181 KB
Volume
147
Category
Article
ISSN
0092-8674

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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