Clinical and Molecular Portraits of Pediatric RASopathies: A Study of 118 Genotype-Confirmed Cases.

RAS/MAPK pathway dysregulation — clinical and molecular portrait of 118 confirmed cases

This single-center retrospective study describes the clinical and molecular portraits of 118 genotype-confirmed pediatric RASopathy patients. Noonan syndrome is the most common diagnosis, followed by NF-Noonan, Legius, LEOPARD, Costello, and cardiofaciocutaneous syndromes. Genotype-phenotype correlations and clinical spectrum expansion are documented.

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A single-center cohort of 118 confirmed RASopathies provides valuable genotype-phenotype data for genetic counseling and demonstrates the value of panel/exome sequencing in this heterogeneous group.

Clinical impact: 2/3 · Evidence strength: 2/3 · Novelty: 1/2 · Sample size: 1/1 · Publication status: 1/1 → Total: 7/10