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Article

Cherubism: best clinical practice.

Orphanet journal of rare diseases - 24 May 2012

Papadaki Maria E, Lietman Steven A, Levine Michael A, Olsen Bjorn R, Kaban Leonard B, Reichenberger Ernst J

Abstract excerpt

Cherubism is a skeletal dysplasia characterized by bilateral and symmetric fibro-osseous lesions limited to the mandible and maxilla. In most patients, cherubism is due to dominant mutations in the SH3BP2 gene on chromosome 4p16.3. Affected children appear normal at birth. Swelling of the jaws us...

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Identifiers

PMID: 22640403
DOI: 10.1186/1750-1172-7-S1-S6
PMCID: PMC3359956

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22640403-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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