Genetic Heterogeneity of Usher Syndrome: Analysis of 151 Families with Usher Type I

Article, Other literature type English OPEN
Astuto, Lisa M. ; Weston, Michael D. ; Carney, Carol A. ; Hoover, Denise M. ; Cremers, Cor W.R.J. ; Wagenaar, Mariette ; Moller, Claes ; Smith, Richard J.H. ; Pieke-Dahl, Sandra ; Greenberg, Jacquie ; Ramesar, Raj ; Jacobson, Samuel G. ; Ayuso, Carmen ; Heckenlively, John R. ; Tamayo, Marta ; Gorin, Michael B. ; Reardon, Willie ; Kimberling, William J. (2000)
  • Publisher: Elsevier BV
  • Journal: The American Journal of Human Genetics, volume 67, issue 6, pages 1,569-1,574 (issn: 0002-9297)
  • Related identifiers: pmc: PMC1287932, doi: 10.1086/316889
  • Subject: Genetics(clinical) | Genetics | Report
    mesheuropmc: eye diseases | otorhinolaryngologic diseases

Usher syndrome type I is an autosomal recessive disorder marked by hearing loss, vestibular areflexia, and retinitis pigmentosa. Six Usher I genetic subtypes at loci USH1A–USH1F have been reported. The MYO7A gene is responsible for USH1B, the most common subtype. In our... View more
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