Author

Serdar Bozlak

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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

Case report Open access Jul 2026

Neurovascular Involvement in Arterial Tortuosity Syndrome Associated with a Homozygous SLC2A10 p.(Trp162Ter) Variant: Clinical, Molecular, and In Silico Characterization

These findings broaden the neurovascular spectrum of SLC2A10-related ATS and demonstrate that p.(Trp162Ter) severely disrupts GLUT10 architecture, topology, and ligand binding.

Serdar Bozlak, Cüneyd Yavaş, Evrim Yalcin et al. · International Journal of Mol... · 0 citations

Open access Sep 2026

Novel Homozygous LAMC3 Frameshift Variant Associated with Confluent Leukoencephalopathy and Low-Grade Tectal Glioneuronal Tumor: Expanding the Phenotypic Spectrum with Bioinformatic Characterization

The LAMC3 phenotype is expanded to include leukoencephalopathy and a co-occurring low-grade tectal glioneuronal tumor is reported as a novel, single-case observation, supporting inclusion of LAMC3 in the differential diagnosis of pediatric leukoencephalopathies, particularly with consanguinity.

Serdar Bozlak, Cüneyd Yavaş, H. I. Yilmaz et al. · Life · 0 citations