R101: 11 Novel Mutations in Patients with Usher Syndrome Type II
β Scribed by Michael Patterson; Xiaomei Ouyang; Li L. Du; Samuel Jacobson; Denise Yan; Xue Z. Liu
- Book ID
- 116813108
- Publisher
- SAGE Publications
- Year
- 2007
- Tongue
- English
- Weight
- 33 KB
- Volume
- 137
- Category
- Article
- ISSN
- 0194-5998
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## Communicated by Andreas Gal Usher syndrome type II (USH2) is an autosomal recessive disorder, characterised by moderate to severe high-frequency hearing impairment, normal balance function and progressive visual impairment due to retinitis pigmentosa. Usher syndrome type IIa, the most common su
## Communicated by Albert de la Chapelle Usher syndrome (USH) is a group of autosomal recessive sensory disorders characterized by progressive retinitis pigmentosa (RP) and sensorineural hearing impairment. Usher syndrome type 1 (USH1), with additional vestibular dysfunction, represents the most se
Usher syndrome is a heterogeneous autosomal recessive trait and the most common cause of hereditary deaf-blindness. Usher syndrome type I (USH1) is characterised by profound congenital sensorineural hearing loss, vestibular dysfunction, and prepubertal onset of retinitis pigmentosa. Of the at least