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<i>De Novo</i> Variants in <i>MRTFB</i> have gain of function activity in <i>Drosophila</i> and are associated with a novel neurodevelopmental phenotype with dysmorphic features

2022-12-10

Abstract excerpt

Myocardin-Related Transcription Factor B ( MRTFB ) is an important transcriptional regulator which promotes the activity of an estimated 300 genes during different stages of development. Here we report two pediatric probands with de novo variants in MRTFB (R104G and A91P) and mild dysmorphic features, intellectual disability, global developmental delays, speech apraxia, and impulse control issues. As the MRTFB...

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Literature Corpus work
06eee0e4-4b64-55c3-be50-188270ab8917
DOI
10.1101/2022.12.06.518921
Open publication

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<i>De Novo</i> Variants in <i>MRTFB</i> have gain of function activity in <i>Drosophila</i> and are associated with a novel neurodevelopmental phenotype with dysmorphic featuresDOI 10.1101/2022.12.06.518921
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