Author

M. Macchiaiolo

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Case report Open access Jan 2026

Clinical and Molecular Delineation of KAT6B‐Related Disorders: Novel Variants and Refined Genotype–Phenotype Correlations

KAT6B‐related disorders (KRDs) comprise a spectrum of developmental disorders ranging from Genitopatellar syndrome (GPS) to Say–Barber–Biesecker–Young–Simpson syndrome (SBBYSS), with increasing recognition of intermediate phenotypes. Although genotype–phenotype correlations have progressively emerged, the molecular bas...

V. Colona, Maria Gnazzo, A. Donato et al. · Human Mutation · 0 citations

Review Open access Sep 2026

Management of plexiform neurofibromas in neurofibromatosis type 1: An Italian Delphi consensus

Plexiform neurofibromas (PNs) are among the most complex and challenging manifestations of neurofibromatosis type 1 (NF1). Recent advances in understanding their epidemiology, natural history, biology, and imaging features, together with the introduction of MEK inhibitors, have significantly reshaped clinical managemen...

C. Santoro, E. Arkhangelskaya, Ambra Bonvicino et al. · Neurological Sciences · 0 citations