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Defining the criteria for identifying constitutional epimutations

18 Apr 2016

Abstract excerpt

In the January 2016 issue of Clinical Epigenetics, Quiñonez-Silva et al. (Clin Epigenetics 8:1, 2016) described a possible constitutional epimutation of the RB1 gene as a cause of hereditary predisposition to retinoblastoma. The term constitutional epimutation describes an epigenetic aberration in normal tissues that predisposes to disease. The data presented by Quiñonez-Silva et al. are interesting, but further...

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PMID: 27096027
DOI: 10.1186/s13148-016-0207-4

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