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  • Molecular assay reagents intended to identify gene variants associated with microcephalic osteodysplastic primordial dwarfism, a collection of conditions involving short stature (i.e., dwarfism), microcephaly, and neurologic deficits. Genetic variants at multiple loci have been associated with microcephalic osteodysplastic primordial dwarfism. These reagents are intended to detect various types of genetic changes (e.g., deletions, duplications, insertions, single nucleotide polymorphisms) in multiple microcephalic osteodysplastic primordial dwarfism-associated loci simultaneously.
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