HIGHLIGHTS
- who: Richard H. van Jaarsveld from the We initiated this study after the identification of a de novo c G>A (p.Gly Ser) variant in KDM B (NM_032590., have published the paper: Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature, in the Journal: (JOURNAL) of 12/07/2022
- future: Studies are necessary to fully understand the broad effect of KDM2B on human development.
SUMMARY
Genes encoding for epigenetic regulators are an emerging class of monogenic disease genes associated with neurodevelopment disorders (NDDs). Sporadic patients and . . .
If you want to have access to all the content you need to log in!
Thanks :)
If you don't have an account, you can create one here.