Novel human MEDopathy caused by biallelic MED16 variants
June 13, 2024
Variants in several subunits of the Mediator protein complex are responsible for MEDopathies, which present variable clinical manifestations and modes of inheritance. Researchers from Université de Paris Cité have investigated the role of MED16, a subunit of the evolutionary-conserved Mediator complex, in MEDopathies.