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  • Molecular assay reagents intended to identify deletions and duplications in genes associated with Emery-Dreifuss syndrome, a form of muscular dystrophy affecting skeletal and cardiac muscles and characterized by contractures, a tightening of joints that can lead to joint rigidity and/or deformity. Genetic variants at multiple loci have been associated with Emery-Dreifuss syndrome. These reagents are intended to detect deletions and duplications in multiple Emery-Dreifuss syndrome-associated loci simultaneously.
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