Article

Ehmt2 Loss-of-function Alterations Cause a Kleefstra-like Syndrome

2024-02-14

Abstract excerpt

<title>Abstract</title> <p>The dysregulation of the epigenetic machinery has been linked to neurodevelopmental defects in humans. One such syndrome is Kleefstra syndrome (KS), which results from heterozygous alterations in the <italic>EHMT1</italic> gene, leading to loss of function. EHMT1 and EHMT2 are highly similar histone methyltransferases that play crucial roles in development. Despite their similarity, alt...

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Literature Corpus work: 2b77baf9-5406-5547-a62b-328bd66cecb5
DOI: 10.21203/rs.3.rs-3893528/v1

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