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