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

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 embryogene...

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Detalles Bibliográficos
Autores principales:	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
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Short Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6907351/ https://www.ncbi.nlm.nih.gov/pubmed/31829238 http://dx.doi.org/10.1186/s13148-019-0760-8

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