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Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2

✍ Scribed by Tassabehji, May; Read, Andrew P.; Newton, Valerie E.; Patton, Michael; Gruss, Peter; Harris, Rodney; Strachan, Tom

Book ID: 109914884
Publisher: Nature Publishing Group
Year: 1993
Tongue: English
Weight: 611 KB
Volume: 3
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng0193-26

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Waardenburg syndrome (WS) types I, II, and III (McKusick #14882, #19351, and #19350) are related autosomal dominant disorders characterized by sensorineural hearing loss, dystopia canthorum, pigmentary disturbances, and other developmental defects. Disease causing PAX3 mutations have been identified

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