Roberts syndrome is an autosomal recessive disorder characterized by craniofacial anomalies, tetraphocomelia and loss of cohesion at heterochromatic regions of centromeres and the Y chromosome. We identified mutations in a new human gene, ESCO2, associated with Roberts syndrome in 15 kindreds. The ESCO2 protein product is a member of a conserved protein family that is required for the establishment of sister chromatid cohesion during S phase and has putative acetyltransferase activity.
VMS imaging at approximately 70 keV yielded lower image noise and higher CNR than did 120-kVp CT for a given radiation dose. VMS imaging has the potential to replace 120-kVp CT as the standard CT imaging modality, since optimal VMS imaging may be expected to yield improved image quality in a patient with standard body habitus.
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