Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian pati...
Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients
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Publisher
United States: Public Library of Science
Journal title
Language
English
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Publisher
United States: Public Library of Science
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Scope and Contents
Contents
Usher syndrome (USH) is an autosomal recessive disorder characterized by combined deafness-blindness. It accounts for about 50% of all hereditary deafness blindness cases. Three clinical subtypes (USH1, USH2, and USH3) are described, of which USH1 is the most severe form, characterized by congenital profound deafness, constant vestibular dysfunctio...
Alternative Titles
Full title
Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients
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TN_cdi_plos_journals_1667180780
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1667180780
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ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0120584
