The Usher syndrome type 2A: clinical findings in obligate carriers
β Scribed by Annelies van Aarem; Cor W.R.J. Cremers; Alfred J.L.G. Pinckers; Patrick L.M. Huygen; Godfried C.J.H. Hombergen; Bill J. Kimberling
- Book ID
- 116103213
- Publisher
- Elsevier Science
- Year
- 1995
- Tongue
- English
- Weight
- 972 KB
- Volume
- 31
- Category
- Article
- ISSN
- 0165-5876
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Usher syndrome type II (USH2) is characterised by moderate to severe high-frequency hearing impairment, progressive visual loss due to retinitis pigmentosa and intact vestibular responses. Three loci are known for USH2, however, only the gene for USH2a (USH2A) has been identified. Mutation analysis
## 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