Article

De novo variants in<i>KDM2A</i>cause a syndromic neurodevelopmental disorder

2025-04-02

Abstract excerpt

Germline variants that disrupt components of the epigenetic machinery cause syndromic neurodevelopmental disorders. Using exome and genome sequencing, we identified de novo variants in KDM2A , a lysine demethylase crucial for embryonic development, in 18 individuals with developmental delays and/or intellectual disabilities. The severity ranged from learning disabilities to severe intellectual disability. Other co...

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Literature Corpus work: 156b64d1-a0d8-5cb5-96f3-6c3b9c83ab99
DOI: 10.1101/2025.03.31.25324695

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