Article
Interplay between Histone and DNA Methylation Seen through Comparative Methylomes in Rare Mendelian Disorders.
International journal of molecular sciences - 3 Apr 2021
Velasco Guillaume, Ulveling Damien, Rondeau Sophie, Marzin Pauline, Unoki Motoko, Cormier-Daire Valérie, Francastel Claire
Abstract excerpt
DNA methylation (DNAme) profiling is used to establish specific biomarkers to improve the diagnosis of patients with inherited neurodevelopmental disorders and to guide mutation screening. In the specific case of mendelian disorders of the epigenetic machinery, it also provides the basis to infer mechanistic aspects with regard to DNAme determinants and interplay between histone and DNAme that apply to humans....
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