Articles with "architecture phenotypic" as a keyword



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The power of the Mediator complex—Expanding the genetic architecture and phenotypic spectrum of MED12‐related disorders

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Published in 2018 at "Clinical Genetics"

DOI: 10.1111/cge.13412

Abstract: MED12 is a member of the large Mediator complex that controls cell growth, development, and differentiation. Mutations in MED12 disrupt neuronal gene expression and lead to at least three distinct X‐linked intellectual disability syndromes (FG,… read more here.

Keywords: architecture phenotypic; phenotypic; med12; mediator complex ... See more keywords