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.· European Journal of Human Ge...· 0 citations
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