Associated Papers
TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci.
Davis EE et al.
Human Molecular Genetics, 2020
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.
Paumard-Hernández B et al.
European Journal of Human Genetics : Ejhg, 2015
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.
Sharma VP et al.
Nature Genetics, 2013
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