Usher syndrome type I is the most severe form of Usher syndrome. It is an autosomal recessive disorder characterized by profound congenital sensorineural deafness, retinitis pigmentosa, and vestibular abnormalities. Mutations in the myosin VIIA gene (MYO7A) are responsible for Usher syndrome type 1B
Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population
β Scribed by Xiao Mei Ouyang; Denise Yan; Li Lin Du; J. Fielding. Hejtmancik; Samuel G. Jacobson; Walter E. Nance; An Ren Li; Simon Angeli; Muriel Kaiser; Valerie Newton; Steve D. M. Brown; Thomas Balkany; Xue Zhong Liu
- Publisher
- Springer
- Year
- 2005
- Tongue
- English
- Weight
- 233 KB
- Volume
- 116
- Category
- Article
- ISSN
- 0340-6717
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