Mutational Analysis of EYA1, SIX1 and SIX5 Genes and Strategies for Management of Hearing Loss in Patients with BOR/BO Syndrome
Author:
Publisher
Public Library of Science (PLoS)
Subject
Multidisciplinary
Reference31 articles.
1. Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss;FC Fraser;Am J Med Genet,1980
2. Phenotypic manifestations of branchio-oto-renal syndrome;A Chen;Am J Med Genet,1995
3. Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences;EH Chang;Hum Mutat,2004
4. A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family;S Abdelhak;Nat Genet,1997
5. SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes;RG Ruf;Proc Natl Acad Sci U S A,2004
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