Author

Tunay Doğan

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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