Expanding the Genetic Landscape of RASopathies: Significance of Including NF1 in Targeted Panels

Targeted NGS panels improve diagnosis of RASopathies, with a variant detection rate of 78%. Including the <i>NF1</i> gene, even without signs of neurofibromatosis, enhances diagnostic success. This study adds to our understanding of genotype-phenotype relationships in RASopathies and highlights new clinical features tied to <i>SOS1</i> variants. Comprehensive genetic testing supports earlier and more personalized care for patients with RASopathies.