Article

Loss-of-function variants in<i>CUL3</i>cause a syndromic neurodevelopmental disorder

2023-06-16

Abstract excerpt

<h4>Purpose</h4> De novo variants in CUL3 (Cullin-3 ubiquitin ligase) have been strongly associated with neurodevelopmental disorders (NDDs), but no large case series have been reported so far. Here we aimed to collect sporadic cases carrying rare variants in CUL3, describe the genotype-phenotype correlation, and investigate the underlying pathogenic mechanism. <h4>Methods</h4> Genetic data and detailed clinical r...

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Literature Corpus work: 657df706-ac2a-5a7e-8654-87db9f23b534
DOI: 10.1101/2023.06.13.23290941

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