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<i>FBXO22</i> deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature

2024-10-01

Abstract excerpt

<h4>ABSTRACT</h4> FBXO22 encodes an F-box protein which acts as a substrate-recognition component of the SKP1-CUL1-F-box (SCF) E3 ubiquitin ligase complex. Despite its known roles in the post-translational ubiquitination and degradation of specific substrates, including histone demethylases, the impact of FBXO22 on human development remains unknown. Here, we characterize a pleiotropic syndrome with prominent pren...

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Identifiers and source

Literature Corpus work
c59970a8-b9fd-56a3-8b59-922dc55f72eb
DOI
10.1101/2024.09.28.24314530
Open publication

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<i>FBXO22</i> deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signatureDOI 10.1101/2024.09.28.24314530
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