Akademik Veri Yönetim Sistemi
Balkan Medical Journal, cilt.43, sa.2, ss.92-102, 2026 (SCI-Expanded, Scopus, TRDizin)
Background: Wiedemann-Steiner syndrome (WDSTS) is a rare autosomal dominant neurodevelopmental disorder caused by heterozygous pathogenic variants in KMT2A. Although several large international cohorts have helped define its broad clinical spectrum, data from underrepresented populations remain limited. Aims: To characterize the molecular and phenotypic spectrum of Turkish patients with WDSTS and compare these findings with previously published cohorts. Study Design: Multicenter retrospective cohort study. Methods: Sixteen individuals from 15 unrelated families were recruited across Türkiye. Clinical information was obtained through medical records and systematic phenotyping. Molecular analyses included next-generation sequencing or targeted variant testing, and the variants were classified according to the American College of Medical Genetics and Genomics guidelines.