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Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy is a Recurrent Ocular Feature.

Neringa Jurkute,Priya D. Shanmugarajah,Marios Hadjivassiliou,Jenny Higgs,Miodrag Vojcic,Iain Horrocks,Yann Nadjar,Valerie Touitou,Guy Lenaers,Roy Poh,James Acheson,Anthony G. Robson,F. Lucy Raymond,Mary M. Reilly,Patrick Yu-Wai-Man,Anthony T. Moore,Andrew R. Webster,Gavin Arno

Investigative ophthalmology & visual science（2021）

引用 7|浏览31
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关键词
FDXR,ferredoxin reductase,syndromic optic neuropathy,retinal dystrophy,neurodegenerative disorder,iron accumulation
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