Branchio-oculo-facial and branchio-oto-renal syndromes are distinct entities
โ Scribed by A. E. Lin; R. Doherty; D. Lea
- Book ID
- 115091342
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 196 KB
- Volume
- 41
- Category
- Article
- ISSN
- 0009-9163
No coin nor oath required. For personal study only.
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In addition to craniofacial, auricular, ophthalmologic, and oral anomalies, the distinctive phenotype of the branchio-oculo-facial (BOF) syndrome (MIM 113620) includes skin defects in the neck or infra/supra-auricular region. These unusual areas of thin, erythematous wrinkled skin differ from the di
## 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.