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Novel de novo TREX1 mutation in a patient with retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations mimicking demyelinating disease.
Macaron G, Khoury J, Hajj-Ali RA, Prayson RA, Srivastava S, Ehlers JP, Mamsa H, Liszewski MK, Jen JC, Bermel RA, Ontaneda D. Macaron G, et al. Among authors: ehlers jp. Mult Scler Relat Disord. 2021 May 7;52:103015. doi: 10.1016/j.msard.2021.103015. Online ahead of print. Mult Scler Relat Disord. 2021. PMID: 34044261
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