ReNU综合征——一种新发现的常见神经发育障碍。
ReNU syndrome - a newly discovered prevalent neurodevelopmental disorder.
作者信息
Burns Vanessa F, Radford Elizabeth J
机构信息
Wellcome Sanger Institute, Hinxton, CB10 1SA, UK.
Wellcome Sanger Institute, Hinxton, CB10 1SA, UK; Department of Paediatrics, University of Cambridge, Level 8, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK.
出版信息
Trends Genet. 2024 Nov;40(11):914-916. doi: 10.1016/j.tig.2024.09.005. Epub 2024 Oct 1.
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.
最近的两篇论文已经确定非编码基因RNU4-2中的基因变异会导致一种常见的神经发育障碍。这项工作将对罕见病群体产生重大影响，在全球范围内带来数千例诊断。这些研究还突出了非编码区域尚未开发的诊断潜力。
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