Author

Mehmet Burak Mutlu

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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

Open access Jul 2026

Clinical and Electrodiagnostic Characterization of Pediatric Triple A Syndrome: A Cohort of 17 Patients.

The presence of spastic paraparesis and hyperreflexia may clinically resemble hereditary spastic paraplegia, while distal motor involvement may raise consideration of motor neuron disorders.

Osman Kipoğlu, H. Manyas, Mehmet Burak Mutlu et al. · Muscle and Nerve · 0 citations

Aug 2026

Biallelic SLC20A2 loss-of-function in severe early-onset neurodevelopmental disorder with brain calcification.

Findings support a dose-dependent SLC20A2 disease spectrum and expand the phenotype associated with biallelic loss of function from primary brain calcification toward severe early-onset neurodevelopmental disorder with prominent vascular and leptomeningeal calcification.

Mehmet Burak Mutlu, Abdullah Sezer, Elif Özdemir et al. · Journal of Human Genetics · 0 citations