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Waardenburg syndrome

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PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Waardenburg syndrome type 1” (Dermatol Online J. 2006 Mar 30;12(3):21). Authors are Karaman A and Aliagaoglu C from the Department of Genetics, State Hospital, Erzurum, Turkey. Waardenburg syndrome (WS) is a rare disease characterized by sensorineural deafness in association with pigmentary anomalies and defects of neural-crest-derived tissues. Depending on additional symptoms, WS is classified into four types – WS1, WS2, WS3 and WS4. WS1 and WS3 are attributed to mutations in PAX3, whereas WS2 is heterogeneous, being caused by mutations in the microphthalmia-associated transcription factor gene in some but not all affected families. WS4 is attributed to mutations in the endothelin-3 or the endothelin-B receptor genes and SOX10 gene. WS1 is an auditory-pigmentary disorder comprising sensorineural hearing loss and pigmentary disturbances of the iris, hair, and skin, along with dystopia canthorum. To access the full abstract of the article, click here.

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