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  • Molecular assay reagents intended to identify mutations in the paired box gene 3 (PAX3) gene, located at chromosome 2q35-q37, which encodes for a transcription factor. Mutations at this locus have been identified in patients with Waardenburg\'s syndrome type 1 (WS1), a disease characterized by partial albinism and severe hearing loss or deafness, and Waardenburg\'s syndrome type 3 (Klein-Waardenburg syndrome) and craniofacial-deafness-hand syndrome (CDHS).
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