Noonan syndrome‐associated biallelic <i>LZTR1</i> mutations cause cardiac hypertrophy and vascular malformations in zebrafish

Abstract

Our novel zebrafish model phenocopied human recessive Noonan syndrome and supported the loss-of-function mechanism of disease-causing LZTR1 variants. The discovery of vascular malformations in mutants calls for the clinical follow-up of patients to monitor for its emergence. The model will serve as a novel platform for investigating the pathophysiology linking RAS/MAPK signaling to cardiac and vascular pathology.