Associated Papers
Further delineation of ERF-related Chitayat syndrome.
Zhu F et al.
European Journal of Medical Genetics, 2025
Missense and truncated variants in ERF in individuals with a Noonan-like phenotype without craniosynostosis.
Goto Y et al.
Scientific Reports, 2025
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
The current understanding of germline predisposition in non-syndromic sagittal craniosynostosis: a systematic review.
Bille A et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2023
Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis.
Tønne E et al.
European Journal of Human Genetics : Ejhg, 2021
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
A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report.
Körberg I et al.
Bmc Medical Genetics, 2020
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
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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