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Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes

โœ Scribed by L Olavarrieta; C Morales-Angulo; I Del Castillo; F Moreno; MA Moreno-Pelayo


Book ID
110888541
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
357 KB
Volume
73
Category
Article
ISSN
0009-9163

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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.