PAX6 mutations in aniridia.

  title={PAX6 mutations in aniridia.},
  author={Isabel M. Hanson and Anne Seawright and Kevin Hardman and Shirley Hodgson and Dmitri Zaletayev and Gyorgy Fekete and Veronica van Heyningen},
  journal={Human molecular genetics},
  volume={2 7},
Aniridia is a congenital malformation of the eye, chiefly characterised by iris hypoplasia, which can cause blindness. The PAX6 gene was isolated as a candidate aniridia gene by positional cloning from the smallest region of overlap of aniridia-associated deletions. Subsequently PAX6 intragenic mutations were demonstrated in Smalleye, a mouse mutant which is an animal model for aniridia, and six human aniridia patients. In this paper we describe four additional PAX6 point mutations in aniridia… CONTINUE READING

From This Paper

Topics from this paper.
52 Citations
0 References
Similar Papers


Publications citing this paper.
Showing 1-10 of 52 extracted citations

Similar Papers

Loading similar papers…