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Article

Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach.

Clinical epigenetics - 1 Mar 2023

Bilo Larissa, Ochoa Eguzkine, Lee Sunwoo, Dey Daniela, Kurth Ingo, Kraft Florian, Rodger Fay, Docquier France, Toribio Ana, Bottolo Leonardo, Binder Gerhard, Fekete György, Elbracht Miriam, Maher Eamonn R, Begemann Matthias, Eggermann Thomas

Abstract excerpt

BACKGROUND: Imprinting disorders (ImpDis) comprise diseases which are caused by aberrant regulation of monoallelically and parent-of-origin-dependent expressed genes. A characteristic molecular change in ImpDis patients is aberrant methylation signatures at disease-specific loci, without an obvious DNA change at the specific differentially methylated region (DMR). However, there is a growing number of reports on...

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Identifiers

PMID: 36859312
DOI: 10.1186/s13148-023-01453-5
PMCID: PMC9979536

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