Missense and truncated variants in ERF in individuals with a Noonan-like phenotype without craniosynostosis

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-positiv...

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Main Authors: Yusuke Goto, Tetsuya Niihori, Seiji Mizuno, Nobuhiko Okamoto, Tsutomu Ogata, Kenji Kurosawa, Hirofumi Ohashi, Yoichi Matsubara, Taiki Abe, Atsuo Kikuchi, Yoko Aoki
Format: Article
Language:English
Published: Nature Portfolio 2025-04-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-025-89719-1
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