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Cataract, Abnormal Electroretinogram and Visual Evoked Potentials in a Child with SMA-LED2 - Extending the Phenotype

Agata Oliwa,Shuko Joseph,Eoghan Millar,Iain Horrocks, Dawn Penman,Julia Baptista, Thomas Cullup,Panayiotis Constantinou,Anne-Marie Heuchan,Ruth Hamilton,Cheryl Longman

Journal of Neuromuscular Diseases（2022）

Cited 0|Views5
Key words
Arthrogryposis,cataract,BICD2,SMA-LED2,spinal muscular atrophy lower extremity predominant
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