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Article

Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family.

European journal of human genetics : EJHG - 1 Apr 2021

Eggermann Thomas, Kadgien Gundula, Begemann Matthias, Elbracht Miriam

Abstract excerpt

The term multilocus imprinting disturbance (MLID) describes the aberrant methylation of multiple imprinted loci in the genome, and MLID occurs in patients suffering from imprinting disorder carrying methylation defects. First data indicate that functional variants in factors expressed from both the fetal as well as the maternal genome cause MLID. Molecular changes in such genes of the maternal genome are called...

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Identifiers

PMID: 33221824
DOI: 10.1038/s41431-020-00762-0
PMCID: PMC8115525

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