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.
· Genes · 0 citations