Tara Keshavarz Shirazi

Nov 25, 2024 | biorxiv.org | Bing Xu |Levi Legler |Tara Keshavarz Shirazi |Sereene Kurzum

AbstractRASopathies are rare genetic disorders caused by mutations in genes within the canonical Ras/MAPK signaling pathway, affecting cell growth and differentiation. These syndromes, which include conditions like Noonan syndrome (NS), are characterized by developmental delays, distinctive facial dysmorphia, and a variety of cardiac defects, notably hypertrophic cardiomyopathy (HCM). Despite their prevalence and impact, therapeutic options for RASopathies remain limited.