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Functional analysis of Waardenburg syndrome-associatedPAX3andSOX10mutations: report of a dominant-negativeSOX10mutation in Waardenburg syndrome type II

✍ Scribed by Hua Zhang; Hongsheng Chen; Hunjin Luo; Jing An; Lin Sun; Lingyun Mei; Chufeng He; Lu Jiang; Wen Jiang; Kun Xia; Jia-Da Li; Yong Feng


Publisher
Springer
Year
2011
Tongue
English
Weight
662 KB
Volume
131
Category
Article
ISSN
0340-6717

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Waardenburg syndrome (WS) is a rare disorder characterized by pigmentation defects and sensorineural deafness, classified into four clinical subtypes, WS1-S4. Whereas the absence of additional features characterizes WS2, association with Hirschsprung disease defines WS4. WS is genetically heterogene