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Article

A novel mutation in the SH3BP2 gene causes cherubism: case report

1 Dec 2006

Abstract excerpt

BACKGROUND: Cherubism is a rare hereditary multi-cystic disease of the jaws, characterized by its typical appearance in early childhood, and stabilization and remission after puberty. It is genetically transmitted in an autosomal dominant fashion and the gene coding for SH3-binding protein 2 (SH3BP2) may be involved. CASE PRESENTATION: We investigated a family consisting of 21 members with 3 female affected...

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PMID: 17147794
DOI: 10.1186/1471-2350-7-84

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A novel mutation in the SH3BP2 gene causes cherubism: case reportPMID 17147794Read ↗

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