Article
Novel nucleotide mutation leading to a recurrent amino acid alteration in SH3BP2 in a patient with cherubism.
Congenital anomalies - 1 Dec 2013
Sangu Noriko, Shimosato Tsuyoshi, Inoda Hirosato, Shimada Shino, Shimojima Keiko, Ando Tomohiro, Yamamoto Toshiyuki
Abstract excerpt
Cherubism is a rare genetic disorder characterized by progressive facial deformity caused by non-neoplastic bone lesions in the mandible and/or the maxilla. Src homology-3 binding protein 2 gene (SH3BP2) has been found to be the responsible gene, with alterations in six amino acids noted in patients with this condition. Recently, mutations in this domain have been found to cause stabilization of SH3BP2 by...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.