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Pleiotropic effects of MORC2 derive from its epigenetic signature

28 Apr 2025

Abstract excerpt

Heterozygous missense mutations in MORC2 have been implicated in various clinical entities, ranging from early-onset neurodevelopmental disorders to late-onset neuropathies. The mechanism underlying the phenotypic heterogeneity and pleiotropic effects of MORC2 has remained elusive. Here, we analysed blood and fibroblast DNA methylation, transcriptomes, proteomes and phenotypes of 53 MORC2 patients. We identified...

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PMID: 40302207
DOI: 10.1093/brain/awaf159

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