The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype.

doi:10.1186/s13148-019-0760-8

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Article

The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype.

Clinical epigenetics - 11 Dec 2019

Sparago Angela, Verma Ankit, Patricelli Maria Grazia, Pignata Laura, Russo Silvia, Calzari Luciano, De Francesco Naomi, Del Prete Rosita, Palumbo Orazio, Carella Massimo, Mackay Deborah J G, Rezwan Faisal I, Angelini Claudia, Cerrato Flavia, Cubellis Maria Vittoria, Riccio Andrea

Abstract excerpt

BACKGROUND: A subset of individuals affected by imprinting disorders displays multi-locus imprinting disturbances (MLID). MLID has been associated with maternal-effect variants that alter the maintenance of methylation at germline-derived differentially methylated regions (gDMRs) in early embryogenesis. Pedigrees of individuals with MLID also include siblings with healthy phenotype. However, it is unknown if...

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PMID: 31829238
DOI: 10.1186/s13148-019-0760-8
PMCID: PMC6907351

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

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