ReNU syndrome - a newly discovered prevalent neurodevelopmental disorder.

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.
Competing Interests: Declaration of interests The authors have no interests to declare.
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