Characterizes genetic features of Noonan syndrome in Colombian children, highlighting early diagnosis for better management.
This study represents the first genetically characterized Colombian cohort for NS. PTPN11 was the predominant gene identified, particularly the p.(Asn308Asp) variant. These findings underscore the genetic heterogeneity of NS and emphasize the importance of early molecular diagnosis to guide clinical management. Multidisciplinary follow-up is essential due to the risks of growth failure, cardiac anomalies, and malignancies.
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Rueda et al. (2026) studied this question.
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