Article

MED20 biallelic pathogenic variants cause a neurodevelopmental disorder altering both transcription activity and Transcription-Coupled Repair pathway

2026-06-03

Abstract excerpt

<title>Abstract</title> <p>Defects in transcription and DNA repair pathways underlie a growing spectrum of rare neurodevelopmental disorders, including MEDopathies and transcription-coupled repair (TCR)-related syndromes like Cockayne Syndrome (CS). Here, we report biallelic variants in MED20, encoding a core subunit of Mediator, in eight individuals presenting intellectual disability, brain atrophy, dystonia and...

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Literature Corpus work: 1e8debe6-7f49-518a-b518-a8d64794a576
DOI: 10.21203/rs.3.rs-9516499/v1

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