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Renal-coloboma syndrome: report of a novel PAX2 gene mutation.

Authors
  • Chung, G W
  • Edwards, A O
  • Schimmenti, L A
  • Manligas, G S
  • Zhang, Y H
  • Ritter, R 3rd
Type
Published Article
Journal
American Journal of Ophthalmology
Publisher
Elsevier
Publication Date
Dec 01, 2001
Volume
132
Issue
6
Pages
910–914
Identifiers
PMID: 11730657
Source
Medline
License
Unknown

Abstract

The causal relationship between PAX2 gene mutations and renal-coloboma syndrome is further supported by this novel mutation. Awareness of the systemic associations with optic nerve abnormalities and the ocular findings in syndromic renal diseases will facilitate the management of these highly variable disorders.

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