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WS2C

Putative gene associated with Waardenburg syndrome type 2 From Wikipedia, the free encyclopedia

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WS2C is a putative gene associated with Waardenburg syndrome type 2. It has not yet been isolated from its locus of chromosome 8p23 since it was first reported in 2001.[1]

Quick facts Waardenburg syndrome, type 2C, Identifiers ...

History

This locus was first linked to Waardenburg syndrome in 2001, when a study of an Italian family with Waardenburg syndrome type 2 features found that they were due to an unknown gene on chromosome 8 at locus 8q23 which had been broken by a chromosomal translocation. The study established a provisional name for the gene, WS2C. However, mutations in this region in Waardenburg syndrome patients have not been found since.[1][2]

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