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  • Molecular assay reagents intended to identify deletions and duplications in genes associated with rhizomelic chondrodysplasia punctata, a peroxisomal disorder characterized by skeletal abnormalities, abnormal facial features, intellectual disability, and respiratory problems. Genetic variants at multiple loci have been associated with rhizomelic chondrodysplasia punctata. These reagents are intended to detect deletions and duplications in multiple rhizomelic chondrodysplasia punctata-associated loci simultaneously.
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