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

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 d...

詳細記述

書誌詳細
主要な著者: Seeliger, M, Fischer, M, Pfister, M
フォーマット: Journal article
言語:German
出版事項: 2009