Aniridie-Wilms-Tumor-Syndrom 106210
Familien-stammbaum
Diagnose-strategie
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Klinik:
Definition: Das Aniridie-Wilms-Tumor-Syndrom ist eine autosomal dominante Erkrankung, die durch Mikrodeletionen der benachbarten PAX6- und WT1-Gene hervorgerufen wird.
Systematische Aufstellung weiterführender Links:
Literatur:
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(1989) Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia. Prosser J et al. (1998) PAX6 mutations reviewed. Quiring R et al. (1994) Homology of the eyeless gene of Drosophila to the Small eye gene in mice and Aniridia in humans. Ramaesh T et al. (2003) Corneal abnormalities in Pax6+/- small eye mice mimic human aniridia-related keratopathy. Ramaesh T et al. (2006) Increased apoptosis and abnormal wound-healing responses in the heterozygous Pax6+/- mouse cornea. Recchia FM et al. (2002) Optical coherence tomography in the diagnosis of foveal hypoplasia. Rutledge JC et al. (1986) A balanced translocation in mice with a neurological defect. Schedl A et al. (1996) Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities. Shaw MW et al. (1960) Congenital Aniridia. Simola KO et al. (1983) Familial aniridia and translocation t(4;11)(q22;p13) without Wilms' tumor. Sisodiya SM et al. (2001) PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans. Stone DL et al. (1976) Congenital central corneal leukoma (Peters' anomaly). Ton CC et al. (1991) Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region. Turleau C et al. (1984) Del11p13/nephroblastoma without aniridia. van der Meer-de Jong R et al. (1990) Location of the gene involving the small eye mutation on mouse chromosome 2 suggests homology with human aniridia 2 (AN2). Zuker CS et al. (1994) On the evolution of eyes: would you like it simple or compound?