Dossier
ReNU syndrome
Coverage of ReNU syndrome in the Nexus archive.
- Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders
A study published in Nature used saturation genome editing of RNU4-2 to identify variants causing a new recessive neurodevelopmental disorder distinct from ReNU syndrome. The research highlights the functional and clinical impact of genetic variants across the entire RNU4-2 gene.