Article

Monoallelic<i>de novo</i>variants in<i>DDX17</i>cause a novel neurodevelopmental disorder

2023-10-15

Abstract excerpt

<h4>Introduction</h4> DDX17 is an RNA helicase shown to be involved in critical processes during the early phases of neuronal differentiation. Globally, we identified 11 patients with neurodevelopmental phenotypes with de novo monoallelic variants in DDX17 . All 11 patients had a neurodevelopmental phenotype, whereby intellectual disability, delayed speech and language, and motor delay predominated. <h4>Materials...

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Literature Corpus work: 79d4ad24-6e68-549f-944c-078366c2f2aa
DOI: 10.1101/2023.10.11.23295963

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