Description of a patient cohort with Hereditary Sensory Neuropathy type 1 without retinal disease Macular Telangiectasia type 2 ‐ implications for retinal screening in HSN1-论文-万方医学网

Description of a patient cohort with Hereditary Sensory Neuropathy type 1 without retinal disease Macular Telangiectasia type 2 ‐ implications for retinal screening in HSN1

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作者： Filipa Gomes Rodrigues ^[1] ; Menelaos Pipis ^[2] ; Tjebo F.C. Heeren ^[3] ; Marcus Fruttiger ^[4] ; Mari Gantner ^[5] ; Sandra Vermeirsch ; Mali Okada ; Martin Friedlander ; Mary M Reilly ; Catherine Egan

作者单位： Centre for Neuromuscular Diseases,UCL Queen Square Institute of Neurology ^[1] Medical Retina Service,Moorfields Eye Hospital NHS Foundation Trust ^[2] UCL Institute of Ophthalmology,University College London ^[3] Lowy Medical Research Institute ^[4] Royal Victorian Eye and Ear Hospital ^[5]

关键词 hereditary sensory and autonomic neuropathies HSAN 1 macular telangiectasia type 2 SPTLC1 protein SPTLC2 protein

发布时间 2022-10-13

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