A new mutation in the PAX2 gene in a Papillorenal Syndrome patient

A new mutation in the PAX2 gene in a Papillorenal Syndrome patient

Purpose: To present a new mutation in a patient with Papillorenal Syndrome (PAPRS). Observations: PAPRS is an autosomal dominant disease that involves ocular and renal abnormalities. We present a patient with PAPRS with a genetically diagnosed PAX2 and new pathogenic mutation. A complete ophthalmolo...

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Bibliographic Details
Main Authors: Rahul Rachwani Anil, Carlos Rocha-de-Lossada, Carlos Hernando Ayala, Manuela España Contreras
Format: Article
Language:English
Published: Elsevier 2019-12-01
Series:American Journal of Ophthalmology Case Reports
Online Access:http://www.sciencedirect.com/science/article/pii/S2451993619300374

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http://www.sciencedirect.com/science/article/pii/S2451993619300374

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