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Author

Giulia Bruna Marchetti

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2 papers indexed here

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Review Open access Oct 2026

Genetic syndromes and metabolic diseases: weighting their clinical convergence in the pediatric setting

Neurodevelopmental disorders, hypotonia, microcephaly or macrocephaly, poor growth and distinctive facial traits are some of the most common reasons to refer a child to an expert consultant. But which expert? A priori response might not be always predictable. Clinical experience teaches that it is not unusual to...

Giulia Bruna Marchetti, F. Tagliaferri, Francesca Furlan et al. · 0 citations
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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