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Mehmet Burak Mutlu

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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