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ReNU syndrome - a newly discovered prevalent neurodevelopmental disorder. | LitMetric
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ReNU syndrome - a newly discovered prevalent neurodevelopmental disorder.

Vanessa F Burns Elizabeth J Radford

Trends Genet

Wellcome Sanger Institute, Hinxton, CB10 1SA, UK; Department of Paediatrics, University of Cambridge, Level 8, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK. Electronic address:

Published: November 2024

Two recent papers have identified genetic variants in the noncoding gene RNU4-2 to cause a frequent neurodevelopmental disorder. This work will have a substantial impact on the rare disease community, leading to thousands of diagnoses worldwide. These studies also highlight the untapped diagnostic potential of noncoding regions.

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 Source
http://dx.doi.org/10.1016/j.tig.2024.09.005DOI Listing

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