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S. Vonwill

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Open access Sep 2026

5q31 duplications encompassing PURA are associated with a neurodevelopmental disorder.

PURA heterozygous microdeletions and pathogenic variants have been previously associated with neurodevelopmental disorders (NDDs), grouped into PURA-NDDs, characterized by severe neonatal hypotonia, feeding difficulties, developmental delay, intellectual disability, epilepsy, and distinctive facial features. Here we re...

Laurine Challeat, Solène Remize, T. Alouane et al. · 0 citations

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