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Abdullah Sezer

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Aug 2026

A Newly Identified YIF1B Frameshift Variant Causing Kaya-Barakat-Masson Syndrome.

This case broadens the mutational spectrum of YIF1B-related disease and highlights the distinctive clinical pattern of KABAMAS, with an 11-month-old Turkish girl with profound developmental delay, absent head control, poor feeding, laryngomalacia and cortical visual impairment.

Sabire Gokalp, A. Olgaç, Fehime Erdem Karapınar et al. · 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. · 0 citations