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Paper Details

De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.
Hum Genet
46
2018
C, CDK8, CDK8-kinase module, CDK8-kinase module-associated disease genes, DD, DD/, Duane anomaly, ID, MED13, MED13 protein, MED13L, Mediator, Mediator complex, N, Polymerase II, Pro327, amino acid, amino acids, attention deficit hyperactivity disorder, autism spectrum disorder, child, congenital heart abnormalities, developmental delay, developmental delays, dysmorphisms, hypotonia, in-, intellectual disability, neurodevelopmental disorder, optic nerve abnormalities, patients, speech delays
Author NameAffiliation
Susan M HiattHudsonAlpha Institute for Biotechnology
Kevin M BowlingHudsonAlpha Institute for Biotechnology
Elizabeth Martina BebinUniversity of Alabama at Birmingham
Jane A HurstGreat Ormond Street Hospital for Children
Michael F WanglerBaylor College of Medicine
Katherine S ElliottUniversity of Oxford
Han G BrunnerRadboud University Medical Center
Han G BrunnerDonders Institute for Brain
Han G Brunner
Gregory M CooperHudsonAlpha Institute for Biotechnology
Gregory M CooperHudsonAlpha Institute for Biotechnology
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