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Redefining the MED13L syndrome

Lopes, Fátima Daniela Teixeira; Adegbola, Abidemi; Musante, Luciana; Maciel, P.; Hao Hu; Isidor, Bertrand; Picker-Minh, Sylvie; Caignec, Cedric Le

Congenital cardiac and neurodevelopmental deficits have been recently linked to the mediator complex subunit 13-like protein MED13L, a subunit of the CDK8-associated mediator complex that functions in transcriptional regulation through DNA-binding transcription factors and RNA polymerase II. Heterozygous MED13L variants cause transposition of the great arteries and intellectual disability (ID). Here, we report ...

Date: 2015   |   Origin: RepositóriUM - Universidade do Minho
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