Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations.

@article{Schimmenti1997FurtherDO,
  title={Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations.},
  author={Lisa A Schimmenti and Heather E. Cunliffe and Leslie A. McNoe and Teresa A. Ward and Michelle C French and Heather H Shim and Y. Hi. Zhang and Willem C. Proesmans and Anita Leys and Kyna A Byerly and Stephen R. Braddock and Mitsuo Masuno and Kiyoshi Imaizumi and Koenraad Devriendt and M R Eccles},
  journal={American journal of human genetics},
  year={1997},
  volume={60 4},
  pages={869-78}
}
Renal-coloboma syndrome is a recently described autosomal dominant syndrome of abnormal optic nerve and renal development. Two families have been reported with renal-coloboma syndrome and mutations of the PAX2 gene. The PAX2 gene, which encodes a DNA-binding protein, is expressed in the developing ear, CNS, eye, and urogenital tract. Ocular and/or renal abnormalities have been consistently noted in the five reports of patients with renal-coloboma syndrome, to date, but PAX2 expression patterns… CONTINUE READING

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