The changing face of Usher syndrome: clinical implications.

doi:10.1080/14992020600975279

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Article

The changing face of Usher syndrome: clinical implications.

International journal of audiology - 1 Feb 2007

Cohen Mazal, Bitner-Glindzicz Maria, Luxon Linda

Abstract excerpt

Usher syndrome is both genetically and phenotypically heterogeneous. Traditionally, the condition has been classified into three clinical types, differentiated by the severity and progression of the hearing impairment and by the presence or absence of vestibular symptoms. Recent advances in molecular genetics have enabled researchers to study the phenotypic expression in confirmed molecular groups of Usher. In...

Topics

Audiometry, Pure-Tone
Diagnosis, Differential
Dyneins
Extracellular Matrix Proteins
Humans
Myosin VIIa
Myosins
Phenotype
Usher Syndromes

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Open in PubMed

Identifiers

PMID: 17365059
DOI: 10.1080/14992020600975279

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