Associated Papers
Genetic, Clinical and Neuroradiological Spectrum of MED-Related Disorders: An Updated Review.
Fazio A et al.
Genes, 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
A de novo frameshift variant in MED13 gene in a patient with autism spectrum disorder and magnetic resonance imaging abnormalities mimicking tuberous sclerosis.
Pantalone G et al.
American Journal of Medical Genetics. Part A, 2024
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
A de novo missense variant in MED13 in a patient with global developmental delay, marked facial dysmorphism, macroglossia, short stature, and macrocephaly.
Rogers AP et al.
American Journal of Medical Genetics. Part A, 2021
Could the MED13 mutations manifest as a Kabuki-like syndrome?
De Nardi L et al.
American Journal of Medical Genetics. Part A, 2021
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.
Snijders Blok L et al.
Human Genetics, 2018
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