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Search for cis-acting factors and maternal effect variants in Silver-Russell patients with ICR1 hypomethylation and their mothers

Silver-Russell syndrome is an imprinting disorder characterized by severe intrauterine and postnatal growth retardation. The majority of patients show loss of methylation (LOM) of the H19/IGF2 IG-DMR (ICR1) in 11p15.5. In ~10% of these patients aberrant methylation of additional imprinted loci on ot...

Täydet tiedot

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Bibliografiset tiedot
Julkaisussa:Eur J Hum Genet
Päätekijät: Soellner, Lukas, Kraft, Florian, Sauer, Sabrina, Begemann, Matthias, Kurth, Ingo, Elbracht, Miriam, Eggermann, Thomas
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Springer International Publishing 2018
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6303262/
https://ncbi.nlm.nih.gov/pubmed/30218098
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0269-1
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