Cri du chat syndrome patients have DNA methylation changes in genes linked to symptoms of the disease

Petter Holland, Mari Wildhagen, Mette Istre, Olaug Marie Reiakvam, John Arne Dahl & Arne Søraas
Abstract Background Cri du chat (also called 5p deletion, or monosomy 5p) syndrome is a genetic disease caused by deletions of various lengths in the short (p) arm of chromosome 5. Genetic analysis and phenotyping have been used to suggest dose-sensitive genes in this region that may cause symptoms when a gene copy is lost, but the heterogeneity of symptoms for patients with similar deletions complicates the picture. The epigenetics of the syndrome has only...
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