Rare diseases

1 publications found.

Interplay between Histone and DNA Methylation Seen through Comparative Methylomes in Rare Mendelian Disorders
Published: April, 2021

Abstract: 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 epigene...
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