Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature
Genetics in Medicine(2023)
摘要
Pathogenic heterozygous variants in KDM2B are associated with NDD and a specific epigenetic signature detectable in peripheral blood.
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关键词
Human Genetics,KDM2B,MDEMs,Methylation signatures,Neurodevelopmental disorders
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