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
Enriching for Answers in Rare Diseases.
Fu Y et al.
Medrxiv : the Preprint Server for Health Sciences, 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
MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia.
Reid KM et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.
Meng L et al.
Annals of Neurology, 2021
Select a paper to view details