Article
PAX 6 is normal in most cases of Peters' anomaly.
Eye (London, England) - 1 Jan 1998
Churchill A J, Booth A P, Anwar R, Markham A F
Abstract excerpt
Mutations in the PAX 6 gene are known to cause many cases of inherited and sporadic aniridia. Although embryologically similar to aniridia, the cause of Peters' anomaly has received far less attention. Two reports have been published demonstrating mutations in the PAX 6 gene in Peters' anomaly. We have analysed the PAX 6 gene in 15 individuals with Peters' anomaly (7 familial, 8 sporadic). This is the largest...
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