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A novel PAX2 heterozygous mutation in a family with Papillorenal syndrome: A case report and review of the literature
PURPOSE: Papillorenal syndrome (PAPRS) is a rare inherited disorder often involves abnormalities of eye and kidney. Paired box 2 (PAX2) gene, which is widely expressed in the development of the organs including kidney, ureter, eye, ear, and central nervous system has been considered an underlying ca...
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| Vydáno v: | Am J Ophthalmol Case Rep |
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| Hlavní autoři: | , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Elsevier
2021
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8102412/ https://ncbi.nlm.nih.gov/pubmed/33997468 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajoc.2021.101091 |
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