Associated Papers
MED13L-related disorder characterized by severe motor speech impairment.
Mitchel MW et al.
Journal of Neurodevelopmental Disorders, 2025
MED13L pathogenic missense variants impair protein stability and interaction, underlying diverse clinical outcomes.
Smol T et al.
Hgg Advances, 2025
MED13L-related disorder characterized by severe motor speech impairment.
Mitchel MW et al.
Research Square, 2024
Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.
Li K et al.
Ebiomedicine, 2024
38113761 (PubMed )
Supplement: mmc2.xlsx › Table_S7
MED13L and its disease-associated variants influence the dendritic development of cerebral cortical neurons in the mammalian brain.
Hamada N et al.
Journal of Neurochemistry, 2023
Report of a de novo c.2605C > T (p.Pro869Ser) change in the MED13L gene and review of the literature for MED13L-related intellectual disability.
Yi Z et al.
Italian Journal of Pediatrics, 2020
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.
Smol T et al.
Neurogenetics, 2018
Language and Cognitive Impairment Associated with a Novel p.Cys63Arg Change in the MED13L Transcriptional Regulator.
Jiménez-Romero S et al.
Molecular Syndromology, 2018
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