Mutations in Mediator Complex Genes CDK8, MED12, MED13, and MEDL13 Mediate Overlapping Developmental Syndromes
Author:
Publisher
S. Karger AG
Subject
Genetics(clinical),Genetics
Reference35 articles.
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3. Asadollahi R, Zweier M, Gogoll L, Schiffmann R, Sticht H, et al: Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation. Eur J Med Genet 60:451-464 (2017).
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1. MED13 Gene Mutation Related to Autism Spectrum Disorder: A Case Report;Cureus;2024-05-08
2. A de novo frameshift variant in MED13 gene in a patient with autism spectrum disorder and magnetic resonance imaging abnormalities mimicking tuberous sclerosis;American Journal of Medical Genetics Part A;2024-03-25
3. Genetically Engineered Mice Unveil In Vivo Roles of the Mediator Complex;International Journal of Molecular Sciences;2023-05-26
4. MED13 mutation: A novel cause of developmental and epileptic encephalopathy with infantile spasms;Seizure;2022-10
5. Transcription Pause and Escape in Neurodevelopmental Disorders;Frontiers in Neuroscience;2022-05-09
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