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Bilateral Optic Disc Anomalies Associated with PAX2 Mutation in a Case of Potter Sequence
PURPOSE: To describe the ophthalmic findings in the fundus of a Japanese infant with Potter sequence having a mutation in the PAX2 gene. METHODS: A 1-month-old infant diagnosed with Potter sequence who had bilateral renal hypoplasia and a mutation in the PAX2 gene was subjected to detailed ophthalmi...
Autores principales: | , , , , |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
S. Karger AG
2010
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2999732/ https://www.ncbi.nlm.nih.gov/pubmed/21151632 http://dx.doi.org/10.1159/000321625 |