Mònica Coll-Vidal

Case Report A Rare Cause of Cardiofaciocutaneous Syndrome—KRAS p.Pro34arg: Clinical Delineation, Diagnostic Challenges, and Implications for RASopathy Classification

Background and Clinical Significance: Cardiofaciocutaneous syndrome (CFC) is a rare autosomal dominant RASopathy characterized by craniofacial dysmorphism, congenital heart defects, cutaneous abnormalities, growth impairment, and neurodevelopmental delay. Pathogenic variants in KRAS account for a minority of cases and...