https://www.selleckchem.com/pr....oducts/act001-dmamcl
Two regions of homozygosity were suggestive of UPD involving imprinted regions implicated in SRS and Temple syndrome, and three plausibly pathogenic CNVs were found, including a paternal deletion of . In 48 participants with no plausible pathogenic variant, unbiased analysis of SNVs detected a potential association with . WGS analysis can detect UPD, CNV and SNV and is potentially a valuable addition to diagnosis of SRS and related growth-restricting disorders. WGS analysis can detect UPD, CNV and SNV and is potentially a valuable
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