Article

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

2026-04-07

Abstract excerpt

<title>Abstract</title> <p> <bold>Introduction</bold> : Mutations in TCF12 are identified in 10–20% of coronal craniosynostoses negative for TWIST1 and FGFR mutations, with autosomal dominant inheritance, incomplete penetrance, and wide phenotypic variability. The recognized phenotypic spectrum includes coronal synostosis, craniofacial dysmorphism, ptosis, strabismus, mild syndactyly, and neurocognitive alterat...

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Literature Corpus work: 1f0cdc76-5f31-5d6f-acfe-609d887433ca
DOI: 10.21203/rs.3.rs-9169519/v1

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