Article

Characterization of <i>SETD1A</i> haploinsufficiency in humans and <i>Drosophila</i> defines a novel neurodevelopmental syndrome

2019-12-18

Abstract excerpt

Defects in histone methyltransferases (HMTs) are major contributing factors in neurodevelopmental disorders (NDDs). Heterozygous variants of SETD1A involved in histone H3 lysine 4 (H3K4) methylation were previously identified in individuals with schizophrenia. Here, we define the clinical features of the Mendelian syndrome associated with haploinsufficiency of SETD1A by investigating 15 predominantly pediatric i...

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Literature Corpus work: 55e01326-84d8-5c23-aea3-021a314d2a61
DOI: 10.1101/2019.12.17.879189

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