Novel characterization of MRAS mutation-associated Noonan syndrome: Mild adult-onset hypertrophic cardiomyopathy combined with infective endocarditis: A case report.

Abstract excerpt

RATIONALE: Noonan syndrome (NS) is a RASopathy most frequently associated with mutations in HRAS, NRAS, KRAS, and RRAS2. The contribution of MRAS variants to NS pathogenesis remains poorly characterized, and infective endocarditis (IE) is extremely rare in patients with NS. PATIENT CONCERNS: A 22-year-old woman presented with typical dysmorphic features of NS, including short stature, broad forehead,...

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