Article
<i>De novo HDAC3</i>variants leading to epigenetic machinery dysfunction are associated with a neurodevelopmental disorder
2024-02-01
Abstract excerpt
Histone deacetylase 3 (HDAC3) is a crucial epigenetic modulator essential for brain development. Although its dysfunction is increasingly recognized in various neurodevelopmental disorders, there have been no reports of human diseases related to HDAC3 dysfunction in Online Mendelian Inheritance in Man (OMIM). This study establishes a novel link between heterozygous de novo variants in HDAC3 and a distinct neurodev...
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Identifiers and source
- Literature Corpus work
- 0292302b-aa63-5346-9f95-ae01dde7ecb7
- DOI
- 10.1101/2024.01.29.24301801
