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  • Molecular assay reagents intended to identify deletions in the paired box gene 6 (PAX6) gene, located in 11p13, which encodes for a transcriptional regulator involved in oculogenesis and other development processes; the gene is expressed in the eye and brain. Inherited genetic deletions are present in patients with isolated aniridia; deletions involving both the PAX6 gene and the adjacent WT1 locus are present in patients with WAGR syndrome, which includes Wilms\' tumor, aniridia/genital abnormalities, and developmental disabilities.
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