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C. Gervasini

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Case report Open access Aug 2026

From Misdiagnosis to Discovery: Expanding the Spectrum of Spliceosomopathies

A novel case of the PUS7-related disorder, which was diagnosed in a young girl referred to the authors' center following a misdiagnosis of Kleefstra Syndrome type 2, and its similarities with a main spliceosomopathy, ReNU syndrome are investigated, suggesting that disorders of pseudouridylation might possibly be includ...

Giulia Bruna Marchetti, Francesca Cappuccini, Lucrezia Goisis et al. · 0 citations

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