Associated Papers
Heterozygous variants disrupting the interaction of ERF with activated ERK1/2 cause microcephaly, developmental delay, and skeletal anomalies.
Micale L et al.
European Journal of Human Genetics : Ejhg, 2025
Intrafamilial variability in six family members with ERF-related craniosynostosis syndrome type 4.
Moddemann MK et al.
American Journal of Medical Genetics. Part A, 2022
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
ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.
Glass GE et al.
American Journal of Medical Genetics. Part A, 2019
Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene.
Balasubramanian M et al.
Journal of Medical Genetics, 2017
Mutation Screening of Candidate Genes in Patients with Nonsyndromic Sagittal Craniosynostosis.
Ye X et al.
Plastic and Reconstructive Surgery, 2016
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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