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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Bibliografiska uppgifter
I publikationen:Am J Ophthalmol Case Rep
Huvudupphovsmän: Rachwani Anil, Rahul, Rocha-de-Lossada, Carlos, Ayala, Carlos Hernando, Contreras, Manuela España
Materialtyp: Artigo
Språk:Inglês
Publicerad: Elsevier 2019
Ämnen:
Case Report
Länkar: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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