Associated Papers
Epilepsy due to a MED25 Homozygous Pathogenic Founder Variant.
Ng AC et al.
Journal of Child Neurology, 2025
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding.
Maini I et al.
Neurogenetics, 2021
Further delineation of Basel-Vanagaite-Smirin-Yosef syndrome: Report of three patients.
Haynes D et al.
American Journal of Medical Genetics. Part A, 2020
Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.
Miller CR et al.
Cold Spring Harbor Molecular Case Studies, 2020
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