Article

EHMT2 LOSS-OF-FUNCTION ALTERATIONS CAUSE A KLEEFSTRA-LIKE SYNDROME

2024-01-11

Abstract excerpt

<h4>ABSTRACT</h4> Dysregulation of the epigenetic machinery is associated with neurodevelopmental defects in humans. Kleefstra syndrome (KS) is a neurodevelopmental syndrome caused by heterozygous alterations in the gene EHMT1 that cause loss-of-function. EHTM1 and EHMT2 are highly similar histone methyltransferases that play relevant roles in development. Despite their similarity, individuals with alterations i...

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Literature Corpus work: d0006b0b-2c94-502d-99d1-a1cc065c689f
DOI: 10.1101/2024.01.10.24300997

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