Article

Clinical and Genetic Characterization of Two Colombian Patients with PURA-Related Neurodevelopmental Disorder: Expanding the Latin American Phenotypic Spectrum

2026-05-07

Abstract excerpt

<title>Abstract</title> <p>PURA-related neurodevelopmental disorder (PURA-NDD) is a rare monogenic condition characterized by neonatal hypotonia, developmental delay, epilepsy, and variable multisystem involvement. Data from Latin America remains limited, limiting recognition of the disorder in underrepresented populations. We report two unrelated Colombian patients with neonatal onset hypotonia in whom routine m...

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Literature Corpus work: 7899c056-f88d-5c32-8de9-1c5475151e62
DOI: 10.21203/rs.3.rs-9349889/v1

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