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EYA1Mutation in a Newborn Female Presenting with Cardiofacial Syndrome

โœ Scribed by N. Shimasaki; K. Watanabe; M. Hara; K. Kosaki


Publisher
Springer
Year
2003
Tongue
English
Weight
147 KB
Volume
25
Category
Article
ISSN
0172-0643

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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