Cone pathway dysfunction in Jalili syndrome due to a novel familial variant of CNNM4 revealed by pupillometry and electrophysiologic investigations-论文-万方医学网

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Cone pathway dysfunction in Jalili syndrome due to a novel familial variant of CNNM4 revealed by pupillometry and electrophysiologic investigations

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第一作者： Hyde, Robert A.

作者： Hyde, Robert A. ^[1] ; Kratunova, Evelina ^[2] ; Park, Jason C. ; McAnany, J. Jason

作者单位： Dept Ophthalmol & Visual Sci,Univ Illinois ^[1] Coll Dent,Univ Illinois ^[2]

关键词 Jalili syndrome CNNM4 pupillary light reflex electrophysiology photopic full-field stimulus threshold ROD DYSTROPHY PUPIL RESPONSES MUTATIONS THRESHOLDS LUMINANCE GENETICS FEATURES PROTEIN CEP290

发布时间 2022-07-22

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Cone pathway dysfunction in Jalili syndrome due to a novel familial variant of CNNM4 revealed by pupillometry and electrophysiologic investigations

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Cone pathway dysfunction in Jalili syndrome due to a novel familial variant of CNNM4 revealed by pupillometry and electrophysiologic investigations

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