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EYA1andSIX1gene mutations in Japanese patients with branchio-oto-renal (BOR) syndrome and related conditions

โœ Scribed by Michiyo Okada; Rika Fujimaru; Noriko Morimoto; Kenichi Satomura; Yoshikazu Kaku; Kazuo Tsuzuki; Kandai Nozu; Torayuki Okuyama; Kazumoto Iijima


Publisher
Springer
Year
2006
Tongue
English
Weight
166 KB
Volume
21
Category
Article
ISSN
0931-041X

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๐Ÿ“œ SIMILAR VOLUMES


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

Branchio-oto-renal syndrome: The mutatio
โœ Eugene H. Chang; Maithilee Menezes; Nicole C. Meyer; Robert A. Cucci; Virginie S ๐Ÿ“‚ Article ๐Ÿ“… 2004 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 311 KB

## 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.

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

SIX1 mutation screening in 247 branchio-
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## Communicated by Peter Humphries Branchio-oto-renal syndrome (BOR) is a clinically heterogeneous autosomal dominant form of syndromic hearing loss characterized by variable hearing impairment, malformations of the pinnae, the presence of branchial arch remnants, and various renal abnormalities.