Usher-Syndrom 1D
Das Usher-Syndrome vom Typ 1D wird durch Mutationen im CDH23-Gen hervorgerufen. Die Vererbung ist autosomal rezessiv. Das klinische Bild wird bestimmt von einer Hörstörung und einer Retinitis pigmentosa.
Gliederung
Referenzen:
| 1. |
Zheng QY et al. (2005) Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans. [^] |
| 2. |
Schultz JM et al. (2011) Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes. [^] |
| 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. [^] |
| 4. |
Bolz H et al. (2001) Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. [^] |
| 5. |
Möller CG et al. (1989) Usher syndrome: an otoneurologic study. [^] |
| 6. |
Wayne S et al. (1996) Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10. [^] |
| 7. |
OMIM.ORG article Omim 601067 [^] |
