Open access
Sep 2026
Clinical and Molecular Spectrum of KBG Syndrome in the Largest Independent Turkish Cohort: Novel ANKRD11 Variants, 16q24.3 Deletions, and Structural Insights for Robust ANKRD11 Variant Interpretation.
Background KBG syndrome (OMIM #148050) is a rare autosomal dominant disorder caused by haploinsufficiency of ANKRD11 on chromosome 16q24.3. It is characterized by distinctive craniofacial features, macrodontia, short stature, skeletal anomalies, and neurodevelopmental impairment. Populations outside Western Europe and...
Irem Kalay, Tahir Atik, Elif Yilmaz Gulec et al.
· Balkan Medical Journal · 0 citations