Article
Germline correction of an epimutation related to Silver-Russell syndrome.
Human molecular genetics - 15 Jun 2015
Bruno Céline, Carmignac Virginie, Netchine Irène, Choux Cécile, Duffourd Yannis, Faivre Laurence, Thauvin-Robinet Christel, Le Bouc Yves, Sagot Paul, Bourc'his Déborah, Fauque Patricia
Abstract excerpt
Like genetic mutations, DNA methylation anomalies or epimutations can disrupt gene expression and lead to human diseases. However, unlike genetic mutations, epimutations can in theory be reverted through developmental epigenetic reprograming, which should limit their transmission across generations. Following the request for a parental project of a patient diagnosed with Silver-Russell syndrome (SRS), and the...
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