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Author

Thomas Smol

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2 papers indexed here

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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
Open access Aug 2026

Neonatal mitochondrial encephalopathy due to a splice-altering variant in COX16

Two siblings born to consanguineous parents who presented with neonatal hypotonia, respiratory failure, lactic acidosis and early death are described, establishing the pathogenicity of a splice-altering COX16 variant and expanding the genetic and phenotypic spectrum of COX16 -related mitochondrial disease.

Nicolas Geoffre, N. Gueguen, Anne-Sophie Guémann et al. · 0 citations

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