Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Usher syndrome is a clinically and genetically heterogeneous group of disorgers whose common signs are congenital hearing loss, early retinitis pigmentosa, and vestibular dysfunction.
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Zheng QY et al. (2005) Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans. 
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| 2. |
Schultz JM et al. (2011) Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes.
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| 3. |
Di Palma F et al. (2001) Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D.
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| 4. |
Bolz H et al. (2001) Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.
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| 5. |
Möller CG et al. (1989) Usher syndrome: an otoneurologic study.
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| 6. |
Wayne S et al. (1996) Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10.
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| 7. |
Orphanet article Orphanet ID 886
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| 8. |
Wikipedia article Wikipedia EN (Usher_syndrome)
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