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

*Corresponding author for this work

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Biochemistry, Genetics and Molecular Biology