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

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 e...

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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: 1997
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1712484/
https://ncbi.nlm.nih.gov/pubmed/9106533
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