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Article

Molecular characterization of temple syndrome families with 14q32 epimutations.

European journal of medical genetics - 1 Dec 2020

Brück Johanna, Begemann Matthias, Dey Daniela, Elbracht Miriam, Eggermann Thomas

Abstract excerpt

Temple Syndrome (TS14) is an imprinting disorder caused by molecular disruptions of the imprinted region in 14q32 (MEG3:TSS-DMR). The frequency of the three known TS14 subtypes (deletions, maternal uniparental disomy (upd(14)mat), loss of methylation (LOM)) is currently in discussion, and within the LOM group, the occurrence of Multilocus Imprinting Disturbances (MLID) has been identified. We present 16 TS14...

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Share to Chromosome Disorders
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33010492
DOI: 10.1016/j.ejmg.2020.104077

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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