MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia
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DOI: 10.1002/ana.26019
Abstract: The Mediator multiprotein complex functions as a regulator of RNA polymerase II–catalyzed gene transcription. In this study, exome sequencing detected biallelic putative disease‐causing variants in MED27, encoding Mediator complex subunit 27, in 16 patients from… read more here.
Keywords: cerebellar hypoplasia; developmental delay; med27 variants; variants cause ... See more keywords