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Article

The role of pathogenic TCF12 variants in children with coronal craniosynostosis-a systematic review with addition of two novel cases.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery - 1 Nov 2024

Foss-Skiftesvik Jon, Larsen Carl Christian, Stoltze Ulrik Kristoffer, Kofod Thomas, Hove Hanne, Bøgeskov Lars, Østergaard Elsebet

Abstract excerpt

Craniosynostosis constitutes one of the most common congenital cranial malformations, affecting approximately 6/10,0000 live births. A genetic etiology has long been known for several forms of syndromic craniosynostosis, including pathogenic variants in TWIST1 and FGFR3 in children with Saethre-Chotzen and Muenke syndrome. Over the last decade, reports of genetic aberrations in TCF12 in children with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 39060747
DOI: 10.1007/s00381-024-06544-z

Genes

TCF12
TWIST1
FGFR1
FGFR3

Provenance

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

Related research

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The role of pathogenic TCF12 variants in children with coronal craniosynostosis-a systematic review with addition of two novel cases.PMID 39060747Read ↗

Extended Phenotype of Bilateral Coronal Craniosynostosis Due to Novel TCF12 Mutation.Semantic proximity Read ↗

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Lumbar Hemivertebra Associated with Coronal Craniosynostosis due to TCF12 Mutation: An Expansion of the Axial Skeletal Phenotype.Semantic proximity Read ↗

Lumbar hemivertebra associated with coronal craniosynostosis due to TCF12 mutation: an expansion of the axial skeletal phenotype.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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TCF12-Related Bicoronal Craniosynostosis Complicated by a Large Middle Fossa Arachnoid Cyst and Developmental Regression: Case Report and Literature ReviewSemantic proximity Read ↗

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