Associated Papers
MED13L pathogenic missense variants impair protein stability and interaction, underlying diverse clinical outcomes.
Smol T et al.
Hgg Advances, 2025
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
Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome.
Aoi H et al.
Journal of Human Genetics, 2019
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
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Bowling KM et al.
Genome Medicine, 2017
28554332 (PubMed )
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