Author

A. Aykut

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Open access Aug 2026

Family Tree Mapping of Genetic and Phenotypic Codes of Hereditary Angioedema

Background and Objectives: Hereditary angioedema due to C1 inhibitor deficiency (HAE-C1INH) is a rare autosomal dominant disorder caused by mutations in the SERPING1 gene and is characterized by considerable clinical variability among affected individuals. Although genotype–phenotype correlations have been reported, da...

Ilke Bas, Ela Gökmen, Türkan Dizdar Canbaz et al. · Medicina · 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