Hospital Santa Caterina

Targeted DNA Sequencing Reveals Distinct Rare-Variant Profiles in Pulmonary Hypertension Associated with Chronic Lung Diseases

The mechanisms underlying the development and severity of pulmonary hypertension (PH) in chronic obstructive pulmonary disease (COPD) and interstitial lung disease (ILD) remain poorly understood. To investigate the contribution of genetic factors, we performed targeted sequencing...

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 K...