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