1.PEX7 Mutations Cause Congenital Cataract Retinopathy and Late-Onset Ataxia and Cognitive Impairment: Report of Two Siblings and Review of the Literature.

Lorenzo NANETTI ; Viviana PENSATO ; Valerio LEONI ; Manuela RIZZETTO ; Claudio CACCIA ; Franco TARONI ; Caterina MARIOTTI ; Cinzia GELLERA

Journal of Clinical Neurology 2015;11(2):197-199