Skip to content

Author

F. Acquaviva

We have 2 of 8 papers

We haven’t gathered this author’s papers yet. Follow them and we’ll fetch their work.

Not the right person? Other researchers publish under this name.

Review Open access Oct 2026

Case Report: Hyperinsulinemic hypoglycemia and arterial aneurysms in KAT6B-related disorder: case observation and literature perspective

Introduction KAT6B-related disorders (KAT6B-RD) are rare autosomal dominant chromatinopathies characterized by variable multisystem involvement and marked phenotypic heterogeneity. Case presentation We describe a preterm male infant with intrauterine growth restriction who developed recurrent hypoglycemia toward the en...

Nicola Improda, F. Rosanio, Giada Ballarin et al. · 0 citations
Open access Jul 2026

Claudin‐11–Mediated Hypomyelinating Leukodystrophy 22: New Insights Into Pathogenic Mechanisms

This case supports an autosomal recessive mechanism of CLDN11‐related disease, which differs from the dominant stop‐loss variants reported previously, and broaden the mutational spectrum and suggest distinct pathogenic mechanisms, with important implications for diagnosis and genetic counselling.

F. Acquaviva, S. Troisi, G. Errichiello et al. · 0 citations

We use cookies to run the site and, with your consent, for analytics and to show ads. See our Cookie Policy.