Associated Papers
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.
Dentici ML et al.
European Journal of Human Genetics : Ejhg, 2024
Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay.
Singh R et al.
Cold Spring Harbor Molecular Case Studies, 2021
34117072 (PubMed )
Supplement: supp_mcs.a005991_Supplemental_Material.pdf
Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.
Twigg SR et al.
Nature Genetics, 2013
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