Clinical and molecular characterization of TCF12 variants in an Asian pediatric cohort with craniosynostosis.

doi:10.1186/s12920-026-02417-3

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Clinical and molecular characterization of TCF12 variants in an Asian pediatric cohort with craniosynostosis.

BMC medical genomics - 13 Jul 2026

Zhong Rongle, Zheng Lei, Yan Qing, Gao Zhe, Zhong Chunyu, Zhang Xianli, Zheng Bixia, Zhang Ling, Zhou Wei, Wang Gang

Abstract excerpt

BACKGROUND: Craniosynostosis is a genetically heterogeneous craniofacial disorder caused by the premature fusion of one or more cranial sutures. Pathogenic variants in TCF12, encoding a basic helix-loop-helix (bHLH) transcription factor, represent a major cause of autosomal dominant coronal craniosynostosis and are characterized by incomplete penetrance and marked phenotypic variability. However, clinical and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Asian People
Share to Basic Helix-Loop-Helix Proteins
Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cohort Studies

Share to Craniosynostoses

Share to Exome Sequencing

Share to Infant

Source

Open in PubMed Open full text

Identifiers

PMID: 42443919
DOI: 10.1186/s12920-026-02417-3
PMCID: PMC13520298

Genes

TCF12

Variants

Provenance

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