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Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis

Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis

The team of Prof. Mavrothalassitis in collaboration with the Wilkie lab combining human genetics and animal model systems, identified the genetic basis of a newly recognized clinical disorder, ERF-related craniosynostosis. Twigg et al reveal that ERF haploinsufficiency causes multiple-suture synostosis, craniofacial dysmorphism, Chiari malformation and language delay.