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Identification of a novel mutation in the EYA1 gene in a Korean family with branchio-oto-renal (BOR) syndrome

โœ Scribed by Sung Hee Kim; Jong-Hun Shin; Chang-Ki Yeo; Soon Hee Chang; Su-Yon Park; Eun Hae Cho; Chang-Seok Ki; Jong-Won Kim


Book ID
116563901
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
343 KB
Volume
69
Category
Article
ISSN
0165-5876

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Branchio-oto-renal syndrome (BOR): novel
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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

Identification of three novel mutations
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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