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Reanalysis of Whole Genome Sequencing Resolves Genetically Undiagnosed Patients With "RNUopathies".

Clinical genetics - 1 Mar 2026

Fan Shiqi, Yang Shuanghao, Nie Xiaojing, Yu Zhihua, Jiang Yan, Sun Miao, Gu Weiyue, Zhang Xue

Abstract excerpt

Neurodevelopmental disorders (NDD) are a group of complex conditions characterized by marked phenotypic heterogeneity, primarily involving impairments in cognitive, emotional, and motor development. Approximately 40%-60% of patients with rare NDD remain genetically undiagnosed. Recently, RNU2-2 and RNU5B-1 have been identified as novel genes underlying the "RNUopathies" a syndromic NDD caused by variants in...

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PMID: 40968615
DOI: 10.1111/cge.70069

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