Associated Papers
Mitochondrial dysfunction in MED13 variant-associated disease: a case of infantile spasms, cardiomyopathy and hepatomegaly.
Harada M et al.
Human Genome Variation, 2025
A novel frameshift variant in the MED13 gene causing intellectual developmental disorder-61 in a Chinese family.
Yang Q et al.
Frontiers in Pediatrics, 2025
Expanding phenotype of MED13-associated syndrome presenting novel de novo missense variant in a patient with multiple congenital anomalies.
Tolmacheva E et al.
Bmc Medical Genomics, 2024
MED13 mutation: A novel cause of developmental and epileptic encephalopathy with infantile spasms.
Trivisano M et al.
Seizure, 2022
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