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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Библиографические подробности
Опубликовано в: :Clin Epigenetics
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2019
Предметы:
Short Report
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC6907351/
https://ncbi.nlm.nih.gov/pubmed/31829238
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13148-019-0760-8
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