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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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Literature Corpus work
0292302b-aa63-5346-9f95-ae01dde7ecb7
DOI
10.1101/2024.01.29.24301801
Open publication

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<i>De novo HDAC3</i>variants leading to epigenetic machinery dysfunction are associated with a neurodevelopmental disorderDOI 10.1101/2024.01.29.24301801
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