Article

Hypomethylation of the MEG8:Int2-DMR in patients with pathogenic PLAG1 variants suggests new role of the chr14q32 imprinting cluster in Silver-Russell syndrome

2025-10-08

Abstract excerpt

<title>Abstract</title> <p> <bold>Background</bold> Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous imprinting disorder. The most common molecular defects are loss of methylation of the <italic>H19/IGF2</italic> :IG-DMR on chromosome 11p15.5, followed by maternal uniparental disomy of chromosome 7. Further molecular lesions are genetic variants in the <italic>PLAG1</italic> oncog...

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Literature Corpus work: 96d19d29-4df1-5695-b98c-9ed4a420aa97
DOI: 10.21203/rs.3.rs-7693802/v1

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