Author

Tuna Eren Esen

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Open access Sep 2026

Beyond corneal structure in Noonan syndrome: topographic, tomographic, and optical findings.

INTRODUCTION This study aimed to evaluate corneal topographic, tomographic, and wavefront characteristics in individuals with Noonan syndrome (NS) and to compare these findings with those of healthy controls. METHODS This prospective, case-control study included 18 patients with NS (36 eyes) and 19 age- and sex-match...

Havvanur Bayraktar, Petek Aksöz, Tuna Eren Esen et al. · Ophthalmic Genetics · 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