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Sponsored Design Multi-Agent AI Systems Using MCP and A2A: Engineer your own Pyt Design Multi-Agent AI Systems Using MCP and A2A: Engineer your own Pyt

Author

Donatella Milani

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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
Case report Aug 2026

Beyond Rett syndrome: a case series expanding the neurological spectrum associated with pathogenic MECP2 variants

The findings expand the evidence that pathogenic MECP2 variants can produce neurological phenotypes distinct from classic RTT, including mild neurodevelopmental impairment without regression, and predominantly cerebellar or spastic-ataxic manifestations associated with limited cognitive involvement.

Camilla Meossi, Alessandro De Falco, Deianira Rinaldi et al. · 0 citations

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