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Author

Diana Ramírez-Montaño

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Review Open access Oct 2026

Fatal Neonatal mTORopathy: Expanding the Phenotypic Spectrum of RRAGC-Associated Long-Olsen-Distelmaier Syndrome.

Dilated cardiomyopathy (DCM) is a severe cardiac condition characterized by the enlargement and impaired contraction of the heart's ventricles. Pediatric cases often present unique challenges due to their rarity and the complexity of underlying genetic causes. This study presents the first documented case of a Colombia...

J. Lores, Valentina Botia-Arciniegas, Diana Ramírez-Montaño et al. · 0 citations
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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