Variant: rs1555750721 

    present in Gene: ERF
    present in Chromosome: 19
    Position on Chromosome: 42249327
    Alleles of this Variant: G/-

rs1555750721 in ERF gene and Dysmorphic features PMID 20643727 2010 Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.

PMID 23354439 2013 Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.

PMID 27738187 2017 Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene.