Identification of a novel mutation in the EYA1 gene in a Korean family with branchio-oto-renal (BOR) syndrome
โ 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
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
## 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