Missense and truncated variants in ERF in individuals with a Noonan-like phenotype without craniosynostosis
Abstract ETS2 repressor factor (ERF) is a member of the ETS family of transcriptional repressors downstream of ERK.Although germline truncated variants in ERF have been identified in individuals with Noonan-like syndrome with or without craniosynostosis, the clinical spectrum of ERF variant-positive individuals and the functional characterization o