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Autoimmune retinopathy in a patient with a missense mutation in PITPNM3

SUMMARY: An 85-year-old male with a missense mutation in PITPNM3 gene developed autoimmune retinopathy (AIR). He experienced rapid vision loss which corroborated decreased rod and cone electroretinogram response. The PITPNM3 gene product has been previously shown to be necessary for regulatory T cel...

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Dades bibliogràfiques
Publicat a:Retin Cases Brief Rep
Autors principals: Bakhoum, Mathieu F., Sengillo, Jesse D., Cui, Xuan, Tsang, Stephen H.
Format: Artigo
Idioma:Inglês
Publicat: 2018
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6314191/
https://ncbi.nlm.nih.gov/pubmed/29176531
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/ICB.0000000000000673
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