A Comparative Study of Eya1 and Eya4 Protein Function and Its Implication in Branchio-oto-renal Syndrome and DFNA10
β Scribed by Yuzhou Zhang; Boyd M. Knosp; Mark Maconochie; Rick A. Friedman; Richard J.H. Smith
- Publisher
- Springer-Verlag
- Year
- 2004
- Tongue
- English
- Weight
- 382 KB
- Volume
- 5
- Category
- Article
- ISSN
- 1525-3961
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## Communicated by Maria Rita Passos-Bueno Branchio-oto-renal syndrome (BOR) is an autosomal dominant disorder characterized by the association of branchial and external ear malformations, hearing loss, and renal anomalies. The phenotype varies from ear pits to profound hearing loss, branchial fist
The Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial clefts, preauricular sinuses, hearing loss, and renal anomalies. Recent studies have shown that mutations in EYA1 are associated with BOR. However, the underlying molecular mechanisms by which mutation
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