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Article

Longitudinal Behavior Phenotype Hallmarks in RNU4-2 Syndrome: Implications for Clinical Management.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Apr 2026

Ajmone Paola Francesca, Rigamonti Claudia, Brasca Francesca, Milani Donatella, Ortigosa Chiara Ranci, Iascone Maria, Goisis Lucrezia, Torella Annalaura, Costantino Maria Antonella

Abstract excerpt

Pathogenic variants in the non-coding spliceosomal gene RNU4-2 underlie ReNU syndrome, one of the most prevalent monogenic causes of neurodevelopmental disorders, accounting for ~0.4% of cases. Despite increasing recognition, little is known about the longitudinal behavioral and neuropsychiatric phenotype of affected individuals. We report two patients with RNU4-2 variants, providing a comprehensive description...

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PMID: 41681065
DOI: 10.1002/ajmgb.70004

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