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Waardenburg syndrome associated with bilateral renal anomaly

✍ Scribed by Saniye Ekinci; Arbay O. Ciftci; Mehmet E. Senocak; Nebil Büyükpamukçu


Book ID
116685127
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
121 KB
Volume
40
Category
Article
ISSN
0022-3468

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Mutations in PAX3 associated with waarde
✍ Clinton T. Baldwin; Nina R. Lipsky; Christopher F. Hoth; Tirza Cohen; Wilfred Ma 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 870 KB

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