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Point Mutation of an EYA1-gene Splice Site in a Patient with Oto-facio-cervical Syndrome

✍ Scribed by E. Estefanía; R. Ramírez-Camacho; M. Gomar; A. Trinidad; B. Arellano; J. R. García-Berrocal; J. M. Verdaguer; C. Vilches


Book ID
109117796
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
110 KB
Volume
70
Category
Article
ISSN
0003-4800

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Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial, ear, and renal anomalies. Over 80 mutations in EYA1 have been reported in BOR. Mutations in SIX1, a DNA binding protein that associates with EYA1, have been reported less frequently. One group has recentl