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Usher syndrome: Clinical features, diagnostic options, and therapeutic prospects

Abstract:

Usher syndrome denotes a clinically and genetically heterogeneous combination of retinitis pigmentosa and sensorineural deafness. The division into subtypes I, II, and III is based on the degree of hearing loss: Type I is characterized by deafness from birth together with ataxia and retarded motor development, type II by a stationary deafness of a moderate degree, and type III by a progressive deafness with adult onset. In Germany, Usher syndrome currently bears particular relevance because i...

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Publisher copy:
10.1007/s00347-008-1888-7

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Institution:
University of Oxford
Division:
MSD
Department:
Clinical Neurosciences
Role:
Author
Journal:
Ophthalmologe
Volume:
106
Issue:
6
Pages:
505-511
Publication date:
2009-06-01
DOI:
ISSN:
0941-293X
Source identifiers:
372860
Language:
German
Keywords:
Pubs id:
pubs:372860
UUID:
uuid:79cdaae8-ccdb-40d8-9b66-a95360033d70
Local pid:
pubs:372860
Deposit date:
2013-11-16

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