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De Novo PAX2 Mutation With Associated Papillorenal Syndrome: A Case Report and Literature Review of Penetrance and Expressivity

We report the ocular findings of a Caucasian female with papillorenal syndrome (PAPRS) from a de novo PAX2 mutation. She presented to our clinic with early-onset end-stage renal disease. Ophthalmologic exam revealed bilateral band keratopathy, abnormal optic disc configuration, and Elschnig spots, w...

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Detalles Bibliográficos
Autores principales:	Ali, Maryam, Chang, Michael, Leys, Monique
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cureus 2022
Materias:	Ophthalmology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9550200/ https://www.ncbi.nlm.nih.gov/pubmed/36249605 http://dx.doi.org/10.7759/cureus.29026

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