Hypomethylation of the H19 Gene Causes Not Only Silver-Russell Syndrome (SRS) but Also Isolated Asymmetry or an SRS-Like Phenotype

The H19 differentially methylated region (DMR) controls the allele-specific expression of both the imprinted H19 tumor-suppressor gene and the IGF2 growth factor. Hypermethylation of this DMR—and subsequently of the H19 promoter region—is a major cause of the clinical features of gigantism and/or as...

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Auteurs principaux: Bliek, Jet, Terhal, Paulien, van den Bogaard, Marie-José, Maas, Saskia, Hamel, Ben, Salieb-Beugelaar, Georgette, Simon, Marleen, Letteboer, Tom, van der Smagt, Jasper, Kroes, Hester, Mannens, Marcel
Format: Artigo
Langue:Inglês
Publié: The American Society of Human Genetics 2006
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Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1424698/
https://ncbi.nlm.nih.gov/pubmed/16532391
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