## Abstract Nonsyndromic autosomal dominant sensorineural hearing loss (SNHL) at the DFNA10 locus was described in two families in 2001. Causative mutations that affect the EyaHR domain of the βEyes absent 4β (EYA4) protein were identified. We report on the clinical and genetic analyses of an Austr
SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies
β Scribed by Stephanie A. Hagstrom; Gayle J.T. Pauer; Janet Reid; Ellen Simpson; Sue Crowe; Irene H. Maumenee; Elias I. Traboulsi
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 116 KB
- Volume
- 138A
- Category
- Article
- ISSN
- 1552-4825
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