Population-based risk estimates of Wilms tumor in sporadic aniridia

@article{Grnskov2001PopulationbasedRE,
  title={Population-based risk estimates of Wilms tumor in sporadic aniridia},
  author={Karen Gr{\o}nskov and J{\o}rgen H Olsen and Annie Sand and Winni Pedersen and Niels Carlsen and Anne Marie Bak Jylling and Troels J. Br{\"u}nnich Lyngbye and Karen Br{\o}ndum-Nielsen and Thomas M. Rosenberg},
  journal={Human Genetics},
  year={2001},
  volume={109},
  pages={11-18}
}
Abstract. Aniridia is a severe eye disease characterized by iris hypoplasia; both sporadic cases and familial cases with an autosomal dominant inheritance exist. Mutations in the PAX6 gene have been shown to be the genetic cause of the disease. Some of the sporadic cases are caused by large chromosomal deletions, some of which also include the Wilms tumor gene (WAGR syndrome), resulting in an increased risk of developing Wilms tumor. Based on the unique registration of both cancer and aniridia… CONTINUE READING

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Epidemiology of aniridia in Sweden and Norway.

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Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia.

  • American journal of human genetics
  • 2002
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