Associated Papers
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
35876425 (PubMed )
Supplement: MDS-37-2139-s007.docx
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.
Meng L et al.
Annals of Neurology, 2021
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