| Waardenburg syndrome, type 2C | |
|---|---|
| Identifiers | |
| Symbol | WS2C |
| NCBI gene | 170594 |
| OMIM | 606662 |
| Other data | |
| Locus | Chr. 8 p23 |
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]
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]
References
- 1 2 "OMIM Entry - % 606662 - WAARDENBURG SYNDROME, TYPE 2C; WS2C". omim.org. Retrieved 2019-12-07.
- ↑ Selicorni A, Guerneri S, Ratti A, Pizzuti A (January 2002). "Cytogenetic mapping of a novel locus for type II Waardenburg syndrome". Human Genetics. 110 (1): 64–7. doi:10.1007/s00439-001-0643-9. PMID 11810298. S2CID 24411957.
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