HIGHLIGHTS
- who: Richard H. van Jaarsveld from the University of Groningen have published the article: 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 1 family with heterozygous KDM2B missense variants have been described.22-24 A monogenic KDM2B-related human disorder has . . .
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