Identification of intragenic exon deletions and duplication of TCF12 by whole genome or targeted sequencing as a cause of TCF12-related craniosynostosis

Geahča maid

• Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.
  Dahkki: Sharma, V, et al.
  Almmustuhtton: (2013)
• Mutations of TCF12, encoding a basic-helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis
  Dahkki: Sharma, V, et al.
  Almmustuhtton: (2013)
• Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.
  Dahkki: Sharma, V, et al.
  Almmustuhtton: (2013)
• Gain-of-function mutations in ZIC1 are associated with coronal craniosynostosis and learning disability
  Dahkki: Twigg, S, et al.
  Almmustuhtton: (2015)
• Neurodevelopmental, cognitive, and psychosocial outcomes for individuals with pathogenic variants in the TCF12 gene and associated craniosynostosis
  Dahkki: Kennedy-Williams, P, et al.
  Almmustuhtton: (2021)