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Article

Extended Phenotype of Bilateral Coronal Craniosynostosis Due to Novel TCF12 Mutation.

The Journal of craniofacial surgery - 1 May 2025

Min Lingzhao, Wei Jia, Mao Weiwei, Wang Xiaoqiang

Abstract excerpt

Craniosynostosis is the premature fusion of the cranial sutures, a heterogeneous disorder with a prevalence of ~1 in 2200. The etiology of craniosynostosis is largely unknown. However, several recent genomic discoveries have elucidated the genetic basis for nonsyndromic craniosynostosis, particularly unicoronal or bicoronal craniosynostosis. Coronal craniosynostosis is the second most common type after sagittal...

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Identifiers

PMID: 40558004
DOI: 10.1097/SCS.0000000000010971

Genes

TCF12

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Extended Phenotype of Bilateral Coronal Craniosynostosis Due to Novel TCF12 Mutation.PMID 40558004Read ↗

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Lumbar hemivertebra associated with coronal craniosynostosis due to TCF12 mutation: an expansion of the axial skeletal phenotype.Semantic proximity Read ↗

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Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.Semantic proximity Read ↗

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.Semantic proximity Read ↗

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