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Fig. 2 | Clinical Epigenetics

Fig. 2

From: DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome

Fig. 2

Differentially methylated regions in PHMDS-Large Del epi-signature. a Methylation levels across 15 differentially methylated probes in the IFT140 gene (intronic CPG island) show hypermethylation in PHMDS patients. b Methylation levels across 4 differentially methylated probes in the LAMA1 gene show hypermethylation in PHMDS patients. X-axis, genomic coordinate; Y-axis, DNA methylation levels between 0 and 1; circles, DNA methylation level for every individual at one CpG site; red lines, PHMDS-Large Del patients, blue lines, controls. Methylation patterns in all DMRs are provided in Additional file 4: Table S3.

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Clinical Epigenetics

ISSN: 1868-7083

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