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Author

Kubra Ates

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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. · 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. · 0 citations
Case report Open access Aug 2026

Clinical and Genetic Findings in a Turkish Family With the Recurrent Homozygous EEFSEC p.Asp390Ala Variant.

The EEFSEC gene encodes eukaryotic elongation factor selenocysteine-tRNA-specific, an essential component of the selenoprotein biosynthesis machinery required for normal neurodevelopment. Biallelic EEFSEC variants have recently been associated with a rare autosomal recessive neurodevelopmental disorder with variable ne...

Kubra Ates, Bülent Kara · 0 citations

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