Author

A. Gezdirici

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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

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

Review Open access Sep 2026

Broadening the Okur-Chung syndrome phenotype: adult-onset metabolic features and a contiguous 20p13 deletion in a Turkish multicenter cohort.

This series consolidates Lys198 as a recurrent hotspot across ethnically diverse cohorts, extends the structural-variant spectrum with the first Turkish CSNK2A1 contiguous-gene deletion, and supports adult-onset metabolic-reproductive complications as under-recognized OCNDS features.

Çağrı Doğan, A. Gezdirici, Hatice Özışık et al. · Journal of Human Genetics · 0 citations