De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder

Overview of attention for article published in Human Genetics, May 2018

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New study of Xia-Gibbs syndrome spurs development of patient registry

MedicalXpress, 07 May 2018

Researchers at the Human Genome Sequencing Center at have conducted a study of 20 individuals with Xia-Gibbs syndrome, a rare…

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