Associated Papers
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
Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease.
Slavotinek AM et al.
Hgg Advances, 2024
38521975 (PubMed )
Supplement: mmc2.xlsx › Supplementary_table_2
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
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Bowling KM et al.
Genome Medicine, 2017
28554332 (PubMed )
Supplement: 13073_2017_433_MOESM2_ESM.xlsx › Sheet1
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