Article
De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability.
Human mutation - 1 Jul 2018
Stevens Servi J C, van der Schoot Vyne, Leduc Magalie S, Rinne Tuula, Lalani Seema R, Weiss Marjan M, van Hagen Johanna M, Lachmeijer Augusta M A, Stockler-Ipsiroglu Sylvia G, Lehman Anna, Brunner Han G
Abstract excerpt
The role of disturbed chromatin remodeling in the pathogenesis of intellectual disability (ID) is well established and illustrated by de novo mutations found in a plethora of genes encoding for proteins of the epigenetic regulatory machinery. We describe mutations in the "SET nuclear proto-oncogene" (SET), encoding a component of the "inhibitor of histone acetyltransferases" (INHAT) complex, involved in...
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