Addition of H19 ‘Loss of Methylation Testing’ for Beckwith-Wiedemann Syndrome (BWS) Increases the Diagnostic Yield

Beckwith-Wiedemann syndrome (BWS) is a clinical diagnosis; however, molecular confirmation via abnormal methylation of DMR2(LIT1) and/or DMR1(H19) has clinical utility due to epigenotype-tumor association. Despite the strong link between H19 hypermethylation and tumor risk, several diagnostic labora...

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Detalhes bibliográficos
Main Authors: Lennerz, Jochen K., Timmerman, Robert J., Grange, Dorothy K., DeBaun, Michael R., Feinberg, Andrew P., Zehnbauer, Barbara A.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Investigative Pathology 2010
Assuntos:
Regular Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2928421/
https://ncbi.nlm.nih.gov/pubmed/20616360
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2353/jmoldx.2010.100005
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