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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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| Publicado no: | Am J Ophthalmol Case Rep |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6806373/ https://ncbi.nlm.nih.gov/pubmed/31692565 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajoc.2019.100563 |
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