ArticleMolecular syndromology2025
Expanding the Genetic Landscape of RASopathies: Significance of Including
Article in Molecular syndromology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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1 citing paper in PubMed.
- Cerebellar hemangioblastoma in a patient with neurofibromatosis type 1: A case report.Surgical neurology international · 2026Article
Corrections and comments
- Erratum issuedErratum.2025
Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Introduction: RASopathies are genetic disorders linked to the RAS/MAPK signaling pathway, including Noonan syndrome and related conditions. These disorders have overlapping features and variable phenotypes, making diagnosis challenging. This study examines the clinical and genetic characteristics of RASopathies in pediatric patients to improve diagnostic accuracy and identify novel pathogenic variants. Methods: A total of 23 patients, who were not related to each other and were clinically diagnosed with RASopathy, participated in the study. Patients underwent next-generation sequencing (NGS) panel analyses of 14 RASopathy genes. Results: Pathogenic variants were found in 18 out of 23 patients (78%). The most common variants were in Conclusion: Targeted NGS panels improve diagnosis of RASopathies, with a variant detection rate of 78%. Including the
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