Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.
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Dentici ML, et al. Among authors: biasucci g.
Eur J Hum Genet. 2024 Aug;32(8):954-963. doi: 10.1038/s41431-024-01642-7. Epub 2024 Jun 1.
Eur J Hum Genet. 2024.
PMID: 38824261