Article
Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations.
American journal of human genetics - 1 Apr 1997
Schimmenti L A, Cunliffe H E, McNoe L A, Ward T A, French M C, Shim H H, Zhang Y H, Proesmans W, Leys A, Byerly K A, Braddock S R, Masuno M, Imaizumi K, Devriendt K, Eccles M R
Abstract excerpt
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 developin...
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