Associated Papers
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
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
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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