Das Aniridie-Wilms-Tumor-Syndrom ist eine autosomal dominante Erkrankung, die durch Mikrodeletionen der benachbarten PAX6- und WT1-Gene hervorgerufen wird.
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14. |
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15. |
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17. |
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18. |
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19. |
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20. |
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21. |
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24. |
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25. |
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26. |
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27. |
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28. |
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29. |
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30. |
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31. |
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32. |
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33. |
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34. |
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35. |
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36. |
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37. |
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38. |
Ramaesh T et al. (2003) Corneal abnormalities in Pax6+/- small eye mice mimic human aniridia-related keratopathy. ![]() |
39. |
Mitchell TN et al. (2003) Polymicrogyria and absence of pineal gland due to PAX6 mutation. ![]() |
40. |
Jordan T et al. (1992) The human PAX6 gene is mutated in two patients with aniridia. ![]() |
41. |
Fantes JA et al. (1992) Submicroscopic deletions at the WAGR locus, revealed by nonradioactive in situ hybridization. ![]() |
42. |
D'Elia AV et al. (2006) Molecular analysis of a human PAX6 homeobox mutant. ![]() |
43. |
Atchaneeyasakul LO et al. (2006) Novel and de-novo truncating PAX6 mutations and ocular phenotypes in Thai aniridia patients. ![]() |
44. |
Ramaesh T et al. (2006) Increased apoptosis and abnormal wound-healing responses in the heterozygous Pax6+/- mouse cornea. ![]() |
45. |
Hill RE et al. () Mouse small eye results from mutations in a paired-like homeobox-containing gene. ![]() |
46. |
Ton CC et al. (1991) Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region. ![]() |
47. |
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48. |
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49. |
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50. |
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51. |
Oliver MD et al. (1987) Isolated foveal hypoplasia. ![]() |
52. |
Martha A et al. (1995) Three novel aniridia mutations in the human PAX6 gene. ![]() |
53. |
Fantes J et al. (1995) Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype. ![]() |
54. |
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55. |
Glaser T et al. (1994) PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. ![]() |
56. |
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57. |
None (1994) Position-effect variegation and the new biology of heterochromatin. ![]() |
58. |
None (1994) On the evolution of eyes: would you like it simple or compound? ![]() |
59. |
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60. |
OMIM.ORG article Omim 106210![]() |