Associated Papers
Pathogenicity of Mediator Complex Subunit 27 (MED27) in a Neurodevelopmental Disorder with Cerebellar Atrophy.
Yiliyaer N et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
The indispensable role of Mediator complex subunit 27 during neurodevelopment.
Li X et al.
Cell & Bioscience, 2025
Novel homozygous missense variants in MED27 associated with neurodevelopmental disorder: Clinical and pathogenetic research.
Wu G et al.
Heliyon, 2024
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Maroofian R et al.
Brain : a Journal of Neurology, 2023
The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies.
Grether A et al.
Molecular Genetics & Genomic Medicine, 2023
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.
Meng L et al.
Annals of Neurology, 2021
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