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Case Reports
. 2022 Jan;91(1):158-159.
doi: 10.1002/ana.26274. Epub 2021 Nov 30.

Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease

Manu Jokela  1   2 , Jari Karhu  3 , Janne Nurminen  3 , Mika H Martikainen  1   2   4
Affiliations
Case Reports

Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease

Manu Jokela et al. Ann Neurol. 2022 Jan.
No abstract available

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Conflict of interest statement

Nothing to report.

Figures

FIGURE 1
FIGURE 1
Gadolinium enhancement of CNs III, V, VIII and X in T1 weighted axial (A–D) images. A and B represent 5 mm maximum intensity projection reformatted sections.
See this image and copyright information in PMC

References

    1. Berger W, Meindl A, van de Pol TJ, et al. Isolation of a candidate gene for Norrie disease by positional cloning. Nat Genet 1992;1:199–203. - PubMed
    1. Schuback DE, Chen ZY, Craig IW, et al. Mutations in the Norrie disease gene. Hum Mutat 1995;5:285–292. - PubMed
    1. Smith SE, Mullen TE, Graham D, et al. Norrie disease: extraocular clinical manifestations in 56 patients. Am J Med Genet A 2012;158A:1909–1917. - PubMed
    1. Wang Y, Rattner A, Zhou Y, et al. Norrin/Frizzled4 signaling in retinal vascular development and blood brain barrier plasticity. Cell 2012;151:1332–1344. - PMC - PubMed

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