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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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Bibliografiska uppgifter
I publikationen:Retin Cases Brief Rep
Huvudupphovsmän: Bakhoum, Mathieu F., Sengillo, Jesse D., Cui, Xuan, Tsang, Stephen H.
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2018
Ämnen:
Länkar: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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