Revisiting Wiedemann-Steiner Syndrome: Novel KMT2A Variants and Broadened Clinical Spectrum

This report presents the largest Turkish WDSTS cohort to date, expands the known KMT2A variant spectrum with nine novel alleles, and highlights several underreported clinical features. Beyond its immediate clinical relevance, the study further supports KMT2A as a key chromatin regulator and an "umbrella gene" within the chromatinopathy spectrum. Growing recognition of these disorders underscores the need for systematic, multidisciplinary surveillance and contributes to the expanding global understanding of their shared pathogenic mechanisms.