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Ocular Findings in Gillespie Syndrome: New Association with PAX-6 Mutation

✍ Scribed by Benjamin H. Ticho; Clair Hilchie; Elias Traboulsi; David Robinson


Book ID
116589682
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
38 KB
Volume
10
Category
Article
ISSN
1528-3933

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Mutations in PAX3 associated with waarde
✍ Clinton T. Baldwin; Nina R. Lipsky; Christopher F. Hoth; Tirza Cohen; Wilfred Ma πŸ“‚ Article πŸ“… 1994 πŸ› John Wiley and Sons 🌐 English βš– 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