Author

A. Gezdirici

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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

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.

Okur-Chung neurodevelopmental syndrome (OCNDS; OMIM #617062) is an ultra-rare autosomal dominant disorder caused by heterozygous CSNK2A1 variants encoding CK2α; although the CSNK2A1 Foundation registry lists more than 350 diagnosed individuals worldwide, individual-level phenotypic data have been published for far fewe...

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