DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation.
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DOI: 10.1016/j.ejmg.2019.103737
Abstract: Mutations in KDM5C (lysine (K)-specific demethylase 5C) were causally associated with up to 3% of X-linked intellectual disability (ID) in males. By exome and Sanger sequencing, a novel frameshift KDM5C variant, predicted to eliminate the… read more here.
Keywords: methylation; intellectual disability; dna methylation; kdm5c mutation ... See more keywords