Condition: CRANIOSYNOSTOSIS 3
rs36060670 in
TCF12 gene and
CRANIOSYNOSTOSIS 3
PMID 25271085 2015 Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.
PMID 23354436 2013 Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.
PMID 24736737 2014 Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations.