| 摘要 |
The present disclosure provides epigenetic signatures, comprising genomic CpG dinucleotide sequences, genes, and/or genomic regions, which are differentially methylated in individuals with CHARGE syndrome relative to non-CHARGE syndrome controls, and their use in methods and kits for detecting and/or screening for CHARGE syndrome, or the likelihood of CHARGE syndrome. The present disclosure also provides epigenetic signatures, comprising genomic CpG dinucleotide sequences, genes, and/or genomic regions, which are differentially methylated in individuals with Kabuki syndrome relative to non-Kabuki syndrome controls, and their use in methods and kits for detecting and/or screening for Kabuki syndrome, or the likelihood of Kabuki syndrome. |
