Associated Papers
Novel biallelic variants in IREB2 cause an early-onset neurodegenerative disorder in a Chinese pedigree.
Guo Z et al.
Orphanet Journal of Rare Diseases, 2024
Iron Homeostasis in the CNS: An Overview of the Pathological Consequences of Iron Metabolism Disruption.
Porras CA et al.
International Journal of Molecular Sciences, 2022
Disruption of cellular iron homeostasis by IREB2 missense variants causes severe neurodevelopmental delay, dystonia and seizures.
Maio N et al.
Brain Communications, 2022
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