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Novel EYA1 mutation in a Korean branchio-oto-renal syndrome family

✍ Scribed by Kyu Yup Lee; SungHee Kim; Un Kyung Kim; Chang-Seok Ki; Sang Heun Lee

Book ID: 116564403
Publisher: Elsevier Science
Year: 2007
Tongue: English
Weight: 869 KB
Volume: 71
Category: Article
ISSN: 0165-5876
DOI: 10.1016/j.ijporl.2006.08.023

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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

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## Communicated by Mark H. Paalman EYA1 mutations cause branchio-oto-renal (BOR) syndrome. These mutations include single nucleotide transitions and transversions, small duplications and deletions, and complex genomic rearrangements. The last cannot be detected by coding sequence analysis of EYA1.