Article

Loss of function in <i>RBBP5</i> results in a syndromic neurodevelopmental disorder associated with microcephaly

2024-02-09

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> Epigenetic dysregulation has been associated with many inherited disorders. RBBP5 encodes a core member of the protein complex that methylates histone 3 lysine-4 (H3K4) and has not been implicated in human disease. <h4>Methods</h4> We identify five unrelated individuals with de novo heterozygous pathogenic variants in RBBP5 . Three truncating and two missense variants were...

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Literature Corpus work: a650a6f9-3264-5fc4-9c0b-4ff2fd14b536
DOI: 10.1101/2024.02.06.578086

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