Observational studyJournal of clinical research in pediatric endocrinology2026
Clinical and Genetic Characterization of Noonan Syndrome in a Colombian Pediatric Cohort
Observational study in Journal of clinical research in pediatric endocrinology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Objective: Describe the clinical manifestations and genetic variants of Noonan syndrome (NS) in a Colombian pediatric population and to identify the genes most frequently associated with specific phenotypic features. Methods: A retrospective observational study was conducted on patients under 18 years of age diagnosed with NS between 2013 and 2023. Clinical and molecular data were collected from medical records across several hospitals in Colombia. Molecular confirmation was achieved in all included patients through next generation sequencing-based clinical exome sequencing. However, parental samples were not available for segregation analysis in all cases. Descriptive statistical analyses were performed using R version 4.3.1 to evaluate demographic, clinical, and genetic variables. Results: Among the 45 patients included (21 females, 24 males; mean age at diagnosis 7.5±5.2 years), pathogenic variants were identified across 13 genes, with Conclusion: This study represents the first genetically characterized Colombian cohort for NS.
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