Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis

Medicine, Pediatrics, Neurosurgery, Life Sciences, Genetics,
ERF gene   Noonan syndrome   craniosynostosis   developmental delay   facial features  

Correlation between Erf Gene Loss-of-Function Variants and Noonan Syndrome-like Phenotype - With or Without Craniosynostosis Research Background Members of the ETS transcription factor family play a crucial role in RAS-MAPK signal transduction, regulating the expression of “early response” genes and other functionally related genes. Among them, ETS...