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

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0 Published in 2018 at "Human Genetics"

DOI: 10.1007/s00439-018-1887-y

Abstract: Many genetic causes of developmental delay and/or intellectual disability (DD/ID) are extremely rare, and robust discovery of these requires both large-scale DNA sequencing and data sharing. Here we describe a GeneMatcher collaboration which led to… read more here.

Keywords: med13 component; mediator; novo mutations; disorder ... See more keywords