Increased unfolded protein responses caused by MED17 mutations.

Abstract excerpt

Mediator (MED) is a key regulator of protein-coding gene expression, and mutations in MED subunits are associated with a broad spectrum of diseases. Because mutations in MED17 result in autosomal recessive disorders, including microcephaly, intellectual disability, epilepsy, and ataxia, which are barely reported, with only three case reports to date, genotype-phenotype association should be elucidated. Here, we...

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