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Author

E. Candelo

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Review Open access Aug 2026

Proposal of an Algorithm for the Clinical and Molecular Diagnosis of RASopathies Based on HPO Nomenclature

To the authors' knowledge, this is the first HPO-based diagnostic algorithm for the clinical and molecular approach to RASopathies that provides a structured, accessible tool to improve early recognition and guide molecular testing, particularly for the RASopathy subtypes represented in the validation cohort.

Fernanda Meneses, C. Quintero, J. Lores et al. · 0 citations

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