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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6806373/ https://www.ncbi.nlm.nih.gov/pubmed/31692565 http://dx.doi.org/10.1016/j.ajoc.2019.100563 |