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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...

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Detalles Bibliográficos
Autores principales: Tagami, Mizuki, Honda, Shigeru, Morioka, Ichiro, Matsuo, Masafumi, Negi, Akira
Formato: Texto
Lenguaje:English
Publicado: S. Karger AG 2010
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