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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 patie...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24712477
DOI: 10.1111/cga.12013

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24712477-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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