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Article

Haploinsufficiency of SF3B2 revealed by a craniofacial microsomia with atypical presentation: a case report.

Journal of stomatology, oral and maxillofacial surgery - 1 Oct 2025

Octau Antoine, Colson Cindy, Ferri Joel

Abstract excerpt

Otomandibular syndrome is primarily characterised by craniofacial microsomia (CFM). Pathogenic loss-of-function variants of the SF3B2 gene, which encodes the U2 subunit of the spliceosome, can cause CFM through a haploinsufficiency mechanism. This study aims to present the clinical phenotype and maxillofacial management of a patient carrying a novel SF3B2 gene variant. We present the case of a patient with a...

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Identifiers

PMID: 40615115
DOI: 10.1016/j.jormas.2025.102486

Genes

SF3B2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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